Canonical Allele Identifier: CA626218338

Gene: CAVIN1

Linked Data

• dbSNP Id: rs1336822189
• gnomAD v2: 17-40556786-CCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT-C
• gnomAD v3: 17-42404768-CCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT-C
• gnomAD v4: 17-42404768-CCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT-C
• MyVariant Identifiers: chr17:g.40556787_40556817del (hg19) ; chr17:g.42404769_42404799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404778_42404808del , CM000679.2:g.42404778_42404808del	GRCh38
NC_000017.10:g.40556796_40556826del , CM000679.1:g.40556796_40556826del	GRCh37
NC_000017.9:g.37810322_37810352del	NCBI36
NG_015845.1:g.23522_23552del
NG_015845.2:g.23522_23552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1061_1091del MANE Select	ENSP00000349541.4:p.Glu354GlyfsTer?
ENST00000357037.5:c.1061_1091del	ENSP00000349541.4:p.Glu354GlyfsTer?
NM_012232.5:c.1061_1091del	NP_036364.2:p.Glu354GlyfsTer?
NM_012232.6:c.1061_1091del MANE Select	NP_036364.2:p.Glu354GlyfsTer?