Canonical Allele Identifier: CA2640139002

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223589-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223590del , CM000679.2:g.78223590del	GRCh38
NC_000017.10:g.76219671del , CM000679.1:g.76219671del	GRCh37
NC_000017.9:g.73731266del	NCBI36
NG_029069.1:g.14395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*36del MANE Select	ENSP00000324180.4:n.*36del
ENST00000301633.8:c.*36del	ENSP00000301633.3:n.*36del
ENST00000350051.7:c.*36del	ENSP00000324180.4:n.*36del
ENST00000374948.6:c.347del	ENSP00000364086.1:p.Leu116ArgfsTer19
ENST00000589892.1:n.481del
NM_001012270.1:c.347del	NP_001012270.1:p.Leu116ArgfsTer19
NM_001012271.1:c.*36del	NP_001012271.1:n.*36del
NM_001168.2:c.*36del	NP_001159.2:n.*36del
XR_243654.3:n.667del
XR_934452.1:n.736del
XR_243654.5:n.667del
XR_934452.3:n.736del
NM_001168.3:c.*36del MANE Select	NP_001159.2:n.*36del
NM_001012270.2:c.347del	NP_001012270.1:p.Leu116ArgfsTer19
NM_001012271.2:c.*36del	NP_001012271.1:n.*36del