Canonical Allele Identifier: CA2640138783

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223522-C-CGTGCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223523_78223529dup , CM000679.2:g.78223523_78223529dup	GRCh38
NC_000017.10:g.76219604_76219610dup , CM000679.1:g.76219604_76219610dup	GRCh37
NC_000017.9:g.73731199_73731205dup	NCBI36
NG_029069.1:g.14328_14334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.398_404dup MANE Select	ENSP00000324180.4:p.Ile135MetfsTer?
ENST00000301633.8:c.467_473dup	ENSP00000301633.3:p.Ile158MetfsTer?
ENST00000350051.7:c.398_404dup	ENSP00000324180.4:p.Ile135MetfsTer?
ENST00000374948.6:c.280_286dup	ENSP00000364086.1:p.Ser96CysfsTer11
ENST00000589892.1:n.414_420dup
ENST00000590925.6:c.*200_*206dup	ENSP00000467336.1:n.*200_*206dup
NM_001012270.1:c.280_286dup	NP_001012270.1:p.Ser96CysfsTer11
NM_001012271.1:c.467_473dup	NP_001012271.1:p.Ile158MetfsTer?
NM_001168.2:c.398_404dup	NP_001159.2:p.Ile135MetfsTer?
XR_243654.3:n.600_606dup
XR_934452.1:n.669_675dup
XR_243654.5:n.600_606dup
XR_934452.3:n.669_675dup
NM_001168.3:c.398_404dup MANE Select	NP_001159.2:p.Ile135MetfsTer?
NM_001012270.2:c.280_286dup	NP_001012270.1:p.Ser96CysfsTer11
NM_001012271.2:c.467_473dup	NP_001012271.1:p.Ile158MetfsTer?