Canonical Allele Identifier: CA2640134100

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223786-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223787del , CM000679.2:g.78223787del	GRCh38
NC_000017.10:g.76219868del , CM000679.1:g.76219868del	GRCh37
NC_000017.9:g.73731463del	NCBI36
NG_029069.1:g.14592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*233del MANE Select	ENSP00000324180.4:n.*233del
ENST00000301633.8:c.*233del	ENSP00000301633.3:n.*233del
ENST00000350051.7:c.*233del	ENSP00000324180.4:n.*233del
ENST00000374948.6:c.*130del	ENSP00000364086.1:n.*130del
ENST00000589892.1:n.678del
NM_001012270.1:c.*130del	NP_001012270.1:n.*130del
NM_001012271.1:c.*233del	NP_001012271.1:n.*233del
NM_001168.2:c.*233del	NP_001159.2:n.*233del
XR_243654.3:n.864del
XR_934452.1:n.933del
XR_243654.5:n.864del
XR_934452.3:n.933del
NM_001168.3:c.*233del MANE Select	NP_001159.2:n.*233del
NM_001012270.2:c.*130del	NP_001012270.1:n.*130del
NM_001012271.2:c.*233del	NP_001012271.1:n.*233del