Canonical Allele Identifier: CA2637956462

Gene: CAVIN1

Linked Data

• gnomAD v4: 17-42404782-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404783del , CM000679.2:g.42404783del	GRCh38
NC_000017.10:g.40556801del , CM000679.1:g.40556801del	GRCh37
NC_000017.9:g.37810327del	NCBI36
NG_015845.1:g.23538del
NG_015845.2:g.23538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1077del MANE Select	ENSP00000349541.4:p.Asp360ThrfsTer?
ENST00000357037.5:c.1077del	ENSP00000349541.4:p.Asp360ThrfsTer?
NM_012232.5:c.1077del	NP_036364.2:p.Asp360ThrfsTer?
NM_012232.6:c.1077del MANE Select	NP_036364.2:p.Asp360ThrfsTer?