Canonical Allele Identifier: CA986568191

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076530671
• gnomAD v3: 17-78223735-T-TCTGCCTGTGCAGCGGGTGCTG
• gnomAD v4: 17-78223735-T-TCTGCCTGTGCAGCGGGTGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223739_78223759dup , CM000679.2:g.78223739_78223759dup	GRCh38
NC_000017.10:g.76219820_76219840dup , CM000679.1:g.76219820_76219840dup	GRCh37
NC_000017.9:g.73731415_73731435dup	NCBI36
NG_029069.1:g.14544_14564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*185_*205dup MANE Select	ENSP00000324180.4:n.*185_*205dup
ENST00000301633.8:c.*185_*205dup	ENSP00000301633.3:n.*185_*205dup
ENST00000350051.7:c.*185_*205dup	ENSP00000324180.4:n.*185_*205dup
ENST00000374948.6:c.*82_*102dup	ENSP00000364086.1:n.*82_*102dup
ENST00000589892.1:n.630_650dup
NM_001012270.1:c.*82_*102dup	NP_001012270.1:n.*82_*102dup
NM_001012271.1:c.*185_*205dup	NP_001012271.1:n.*185_*205dup
NM_001168.2:c.*185_*205dup	NP_001159.2:n.*185_*205dup
XR_243654.3:n.816_836dup
XR_934452.1:n.885_905dup
XR_243654.5:n.816_836dup
XR_934452.3:n.885_905dup
NM_001168.3:c.*185_*205dup MANE Select	NP_001159.2:n.*185_*205dup
NM_001012270.2:c.*82_*102dup	NP_001012270.1:n.*82_*102dup
NM_001012271.2:c.*185_*205dup	NP_001012271.1:n.*185_*205dup