Canonical Allele Identifier: CA2576406397

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223515-A-AGTGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223520_78223526dup , CM000679.2:g.78223520_78223526dup	GRCh38
NC_000017.10:g.76219601_76219607dup , CM000679.1:g.76219601_76219607dup	GRCh37
NC_000017.9:g.73731196_73731202dup	NCBI36
NG_029069.1:g.14325_14331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.395_401dup MANE Select	ENSP00000324180.4:p.Ile135ProfsTer?
ENST00000301633.8:c.464_470dup	ENSP00000301633.3:p.Ile158ProfsTer?
ENST00000350051.7:c.395_401dup	ENSP00000324180.4:p.Ile135ProfsTer?
ENST00000374948.6:c.277_283dup	ENSP00000364086.1:p.Pro95ArgfsTer12
ENST00000589892.1:n.411_417dup
ENST00000590925.6:c.*197_*203dup	ENSP00000467336.1:n.*197_*203dup
NM_001012270.1:c.277_283dup	NP_001012270.1:p.Pro95ArgfsTer12
NM_001012271.1:c.464_470dup	NP_001012271.1:p.Ile158ProfsTer?
NM_001168.2:c.395_401dup	NP_001159.2:p.Ile135ProfsTer?
XR_243654.3:n.597_603dup
XR_934452.1:n.666_672dup
XR_243654.5:n.597_603dup
XR_934452.3:n.666_672dup
NM_001168.3:c.395_401dup MANE Select	NP_001159.2:p.Ile135ProfsTer?
NM_001012270.2:c.277_283dup	NP_001012270.1:p.Pro95ArgfsTer12
NM_001012271.2:c.464_470dup	NP_001012271.1:p.Ile158ProfsTer?