Canonical Allele Identifier: CA2640134112

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223788-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223790_78223792del , CM000679.2:g.78223790_78223792del	GRCh38
NC_000017.10:g.76219871_76219873del , CM000679.1:g.76219871_76219873del	GRCh37
NC_000017.9:g.73731466_73731468del	NCBI36
NG_029069.1:g.14595_14597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*236_*238del MANE Select	ENSP00000324180.4:n.*236_*238del
ENST00000301633.8:c.*236_*238del	ENSP00000301633.3:n.*236_*238del
ENST00000350051.7:c.*236_*238del	ENSP00000324180.4:n.*236_*238del
ENST00000374948.6:c.*133_*135del	ENSP00000364086.1:n.*133_*135del
ENST00000589892.1:n.681_683del
NM_001012270.1:c.*133_*135del	NP_001012270.1:n.*133_*135del
NM_001012271.1:c.*236_*238del	NP_001012271.1:n.*236_*238del
NM_001168.2:c.*236_*238del	NP_001159.2:n.*236_*238del
XR_243654.3:n.867_869del
XR_934452.1:n.936_938del
XR_243654.5:n.867_869del
XR_934452.3:n.936_938del
NM_001168.3:c.*236_*238del MANE Select	NP_001159.2:n.*236_*238del
NM_001012270.2:c.*133_*135del	NP_001012270.1:n.*133_*135del
NM_001012271.2:c.*236_*238del	NP_001012271.1:n.*236_*238del