Canonical Allele Identifier: CA2640134692

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224038-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224039_78224040del , CM000679.2:g.78224039_78224040del	GRCh38
NC_000017.10:g.76220120_76220121del , CM000679.1:g.76220120_76220121del	GRCh37
NC_000017.9:g.73731715_73731716del	NCBI36
NG_029069.1:g.14844_14845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*485_*486del MANE Select	ENSP00000324180.4:n.*485_*486del
ENST00000301633.8:c.*485_*486del	ENSP00000301633.3:n.*485_*486del
ENST00000350051.7:c.*485_*486del	ENSP00000324180.4:n.*485_*486del
ENST00000374948.6:c.*382_*383del	ENSP00000364086.1:n.*382_*383del
NM_001012270.1:c.*382_*383del	NP_001012270.1:n.*382_*383del
NM_001012271.1:c.*485_*486del	NP_001012271.1:n.*485_*486del
NM_001168.2:c.*485_*486del	NP_001159.2:n.*485_*486del
XR_243654.3:n.1116_1117del
XR_934452.1:n.1185_1186del
XR_243654.5:n.1116_1117del
XR_934452.3:n.1185_1186del
NM_001168.3:c.*485_*486del MANE Select	NP_001159.2:n.*485_*486del
NM_001012270.2:c.*382_*383del	NP_001012270.1:n.*382_*383del
NM_001012271.2:c.*485_*486del	NP_001012271.1:n.*485_*486del