ClinVar

NM_020987.5(ANK3):c.9328CAA[1] (p.Gln3111del)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60071548 - 60071550 (on Assembly GRCh38)
• Chr10: 61831306 - 61831308 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.9328CAA[1] (p.Gln3111del)

HGVS:

• NC_000010.11:g.60071549TGT[1]
• NG_029917.1:g.666974CAA[1]
• NM_001149.4:c.1808-3541_1808-3539del
• NM_001204403.2:c.4388-3541_4388-3539del
• NM_001204404.2:c.4409-3541_4409-3539del
• NM_001320874.2:c.4406-3541_4406-3539del
• NM_020987.5:c.9328CAA[1]MANE SELECT
• NP_066267.2:p.Gln3111del
• NC_000010.10:g.61831307TGT[1]

This HGVS expression did not pass validation

Protein change:

Q3111del

Molecular consequence:

• NM_020987.5:c.9328CAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001149.4:c.1808-3541_1808-3539del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204403.2:c.4388-3541_4388-3539del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204404.2:c.4409-3541_4409-3539del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320874.2:c.4406-3541_4406-3539del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1