Canonical Allele Identifier: CA2640138062

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223339-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223340_78223342del , CM000679.2:g.78223340_78223342del	GRCh38
NC_000017.10:g.76219421_76219423del , CM000679.1:g.76219421_76219423del	GRCh37
NC_000017.9:g.73731016_73731018del	NCBI36
NG_029069.1:g.14145_14147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.340-125_340-123del MANE Select	ENSP00000324180.4:n.340-125_340-123del
ENST00000301633.8:c.409-125_409-123del	ENSP00000301633.3:n.409-125_409-123del
ENST00000350051.7:c.340-125_340-123del	ENSP00000324180.4:n.340-125_340-123del
ENST00000374948.6:c.222-125_222-123del	ENSP00000364086.1:n.222-125_222-123del
ENST00000589892.1:n.356-125_356-123del
ENST00000590925.6:c.*142-125_*142-123del	ENSP00000467336.1:n.*142-125_*142-123del
NM_001012270.1:c.222-125_222-123del	NP_001012270.1:n.222-125_222-123del
NM_001012271.1:c.409-125_409-123del	NP_001012271.1:n.409-125_409-123del
NM_001168.2:c.340-125_340-123del	NP_001159.2:n.340-125_340-123del
XR_243654.3:n.542-125_542-123del
XR_934452.1:n.611-125_611-123del
XR_243654.5:n.542-125_542-123del
XR_934452.3:n.611-125_611-123del
NM_001168.3:c.340-125_340-123del MANE Select	NP_001159.2:n.340-125_340-123del
NM_001012270.2:c.222-125_222-123del	NP_001012270.1:n.222-125_222-123del
NM_001012271.2:c.409-125_409-123del	NP_001012271.1:n.409-125_409-123del