Canonical Allele Identifier: CA2640134109

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223787-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223788_78223790del , CM000679.2:g.78223788_78223790del	GRCh38
NC_000017.10:g.76219869_76219871del , CM000679.1:g.76219869_76219871del	GRCh37
NC_000017.9:g.73731464_73731466del	NCBI36
NG_029069.1:g.14593_14595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*234_*236del MANE Select	ENSP00000324180.4:n.*234_*236del
ENST00000301633.8:c.*234_*236del	ENSP00000301633.3:n.*234_*236del
ENST00000350051.7:c.*234_*236del	ENSP00000324180.4:n.*234_*236del
ENST00000374948.6:c.*131_*133del	ENSP00000364086.1:n.*131_*133del
ENST00000589892.1:n.679_681del
NM_001012270.1:c.*131_*133del	NP_001012270.1:n.*131_*133del
NM_001012271.1:c.*234_*236del	NP_001012271.1:n.*234_*236del
NM_001168.2:c.*234_*236del	NP_001159.2:n.*234_*236del
XR_243654.3:n.865_867del
XR_934452.1:n.934_936del
XR_243654.5:n.865_867del
XR_934452.3:n.934_936del
NM_001168.3:c.*234_*236del MANE Select	NP_001159.2:n.*234_*236del
NM_001012270.2:c.*131_*133del	NP_001012270.1:n.*131_*133del
NM_001012271.2:c.*234_*236del	NP_001012271.1:n.*234_*236del