Canonical Allele Identifier: CA2637956460

Gene: CAVIN1

Linked Data

• gnomAD v4: 17-42404758-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404762del , CM000679.2:g.42404762del	GRCh38
NC_000017.10:g.40556780del , CM000679.1:g.40556780del	GRCh37
NC_000017.9:g.37810306del	NCBI36
NG_015845.1:g.23562del
NG_015845.2:g.23562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1101del MANE Select	ENSP00000349541.4:p.Asp368ThrfsTer?
ENST00000357037.5:c.1101del	ENSP00000349541.4:p.Asp368ThrfsTer?
NM_012232.5:c.1101del	NP_036364.2:p.Asp368ThrfsTer?
NM_012232.6:c.1101del MANE Select	NP_036364.2:p.Asp368ThrfsTer?