Canonical Allele Identifier: CA2640134107

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223787-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223788del , CM000679.2:g.78223788del	GRCh38
NC_000017.10:g.76219869del , CM000679.1:g.76219869del	GRCh37
NC_000017.9:g.73731464del	NCBI36
NG_029069.1:g.14593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*234del MANE Select	ENSP00000324180.4:n.*234del
ENST00000301633.8:c.*234del	ENSP00000301633.3:n.*234del
ENST00000350051.7:c.*234del	ENSP00000324180.4:n.*234del
ENST00000374948.6:c.*131del	ENSP00000364086.1:n.*131del
ENST00000589892.1:n.679del
NM_001012270.1:c.*131del	NP_001012270.1:n.*131del
NM_001012271.1:c.*234del	NP_001012271.1:n.*234del
NM_001168.2:c.*234del	NP_001159.2:n.*234del
XR_243654.3:n.865del
XR_934452.1:n.934del
XR_243654.5:n.865del
XR_934452.3:n.934del
NM_001168.3:c.*234del MANE Select	NP_001159.2:n.*234del
NM_001012270.2:c.*131del	NP_001012270.1:n.*131del
NM_001012271.2:c.*234del	NP_001012271.1:n.*234del