Canonical Allele Identifier: CA2564259542

Gene: CAVIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404786_42404787del , CM000679.2:g.42404786_42404787del	GRCh38
NC_000017.10:g.40556804_40556805del , CM000679.1:g.40556804_40556805del	GRCh37
NC_000017.9:g.37810330_37810331del	NCBI36
NG_015845.1:g.23534_23535del
NG_015845.2:g.23534_23535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1073_1074del MANE Select	ENSP00000349541.4:p.Ala358GlyfsTer?
ENST00000357037.5:c.1073_1074del	ENSP00000349541.4:p.Ala358GlyfsTer?
NM_012232.5:c.1073_1074del	NP_036364.2:p.Ala358GlyfsTer?
NM_012232.6:c.1073_1074del MANE Select	NP_036364.2:p.Ala358GlyfsTer?