Canonical Allele Identifier: CA986568336

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076533418
• gnomAD v3: 17-78224051-GTT-G
• gnomAD v4: 17-78224051-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224052_78224053del , CM000679.2:g.78224052_78224053del	GRCh38
NC_000017.10:g.76220133_76220134del , CM000679.1:g.76220133_76220134del	GRCh37
NC_000017.9:g.73731728_73731729del	NCBI36
NG_029069.1:g.14857_14858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*498_*499del MANE Select	ENSP00000324180.4:n.*498_*499del
ENST00000301633.8:c.*498_*499del	ENSP00000301633.3:n.*498_*499del
ENST00000350051.7:c.*498_*499del	ENSP00000324180.4:n.*498_*499del
ENST00000374948.6:c.*395_*396del	ENSP00000364086.1:n.*395_*396del
NM_001012270.1:c.*395_*396del	NP_001012270.1:n.*395_*396del
NM_001012271.1:c.*498_*499del	NP_001012271.1:n.*498_*499del
NM_001168.2:c.*498_*499del	NP_001159.2:n.*498_*499del
XR_243654.3:n.1129_1130del
XR_934452.1:n.1198_1199del
XR_243654.5:n.1129_1130del
XR_934452.3:n.1198_1199del
NM_001168.3:c.*498_*499del MANE Select	NP_001159.2:n.*498_*499del
NM_001012270.2:c.*395_*396del	NP_001012270.1:n.*395_*396del
NM_001012271.2:c.*498_*499del	NP_001012271.1:n.*498_*499del