Canonical Allele Identifier: CA2640133887

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223748-CGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223750_78223753del , CM000679.2:g.78223750_78223753del	GRCh38
NC_000017.10:g.76219831_76219834del , CM000679.1:g.76219831_76219834del	GRCh37
NC_000017.9:g.73731426_73731429del	NCBI36
NG_029069.1:g.14555_14558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*196_*199del MANE Select	ENSP00000324180.4:n.*196_*199del
ENST00000301633.8:c.*196_*199del	ENSP00000301633.3:n.*196_*199del
ENST00000350051.7:c.*196_*199del	ENSP00000324180.4:n.*196_*199del
ENST00000374948.6:c.*93_*96del	ENSP00000364086.1:n.*93_*96del
ENST00000589892.1:n.641_644del
NM_001012270.1:c.*93_*96del	NP_001012270.1:n.*93_*96del
NM_001012271.1:c.*196_*199del	NP_001012271.1:n.*196_*199del
NM_001168.2:c.*196_*199del	NP_001159.2:n.*196_*199del
XR_243654.3:n.827_830del
XR_934452.1:n.896_899del
XR_243654.5:n.827_830del
XR_934452.3:n.896_899del
NM_001168.3:c.*196_*199del MANE Select	NP_001159.2:n.*196_*199del
NM_001012270.2:c.*93_*96del	NP_001012270.1:n.*93_*96del
NM_001012271.2:c.*196_*199del	NP_001012271.1:n.*196_*199del