Canonical Allele Identifier: CA986568365

Gene: BIRC5

Linked Data

• dbSNP Id: rs1567867388
• gnomAD v3: 17-78224051-G-GTGTTTTTTTTTTTTTTTT
• gnomAD v4: 17-78224051-G-GTGTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224052_78224053insGTTTTTTTTTTTTTTTTT , CM000679.2:g.78224052_78224053insGTTTTTTTTTTTTTTTTT	GRCh38
NC_000017.10:g.76220133_76220134insGTTTTTTTTTTTTTTTTT , CM000679.1:g.76220133_76220134insGTTTTTTTTTTTTTTTTT	GRCh37
NC_000017.9:g.73731728_73731729insGTTTTTTTTTTTTTTTTT	NCBI36
NG_029069.1:g.14857_14858insGTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*498_*499insGTTTTTTTTTTTTTTTTT MANE Select	ENSP00000324180.4:n.*498_*499insGTTTTTTTTTTTTTTTTT
ENST00000301633.8:c.*498_*499insGTTTTTTTTTTTTTTTTT	ENSP00000301633.3:n.*498_*499insGTTTTTTTTTTTTTTTTT
ENST00000350051.7:c.*498_*499insGTTTTTTTTTTTTTTTTT	ENSP00000324180.4:n.*498_*499insGTTTTTTTTTTTTTTTTT
ENST00000374948.6:c.*395_*396insGTTTTTTTTTTTTTTTTT	ENSP00000364086.1:n.*395_*396insGTTTTTTTTTTTTTTTTT
NM_001012270.1:c.*395_*396insGTTTTTTTTTTTTTTTTT	NP_001012270.1:n.*395_*396insGTTTTTTTTTTTTTTTTT
NM_001012271.1:c.*498_*499insGTTTTTTTTTTTTTTTTT	NP_001012271.1:n.*498_*499insGTTTTTTTTTTTTTTTTT
NM_001168.2:c.*498_*499insGTTTTTTTTTTTTTTTTT	NP_001159.2:n.*498_*499insGTTTTTTTTTTTTTTTTT
XR_243654.3:n.1129_1130insGTTTTTTTTTTTTTTTTT
XR_934452.1:n.1198_1199insGTTTTTTTTTTTTTTTTT
XR_243654.5:n.1129_1130insGTTTTTTTTTTTTTTTTT
XR_934452.3:n.1198_1199insGTTTTTTTTTTTTTTTTT
NM_001168.3:c.*498_*499insGTTTTTTTTTTTTTTTTT MANE Select	NP_001159.2:n.*498_*499insGTTTTTTTTTTTTTTTTT
NM_001012270.2:c.*395_*396insGTTTTTTTTTTTTTTTTT	NP_001012270.1:n.*395_*396insGTTTTTTTTTTTTTTTTT
NM_001012271.2:c.*498_*499insGTTTTTTTTTTTTTTTTT	NP_001012271.1:n.*498_*499insGTTTTTTTTTTTTTTTTT