Canonical Allele Identifier: CA2637956454

Gene: CAVIN1

Linked Data

• gnomAD v4: 17-42404706-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404708del , CM000679.2:g.42404708del	GRCh38
NC_000017.10:g.40556726del , CM000679.1:g.40556726del	GRCh37
NC_000017.9:g.37810252del	NCBI36
NG_015845.1:g.23614del
NG_015845.2:g.23614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1153del MANE Select	ENSP00000349541.4:p.Asp385ThrfsTer?
ENST00000357037.5:c.1153del	ENSP00000349541.4:p.Asp385ThrfsTer?
NM_012232.5:c.1153del	NP_036364.2:p.Asp385ThrfsTer?
NM_012232.6:c.1153del MANE Select	NP_036364.2:p.Asp385ThrfsTer?