Canonical Allele Identifier: CA2640133885

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223748-C-CACCCGCTGCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223748_78223749insACCCGCTGCACA , CM000679.2:g.78223748_78223749insACCCGCTGCACA	GRCh38
NC_000017.10:g.76219829_76219830insACCCGCTGCACA , CM000679.1:g.76219829_76219830insACCCGCTGCACA	GRCh37
NC_000017.9:g.73731424_73731425insACCCGCTGCACA	NCBI36
NG_029069.1:g.14553_14554insACCCGCTGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*194_*195insACCCGCTGCACA MANE Select	ENSP00000324180.4:n.*194_*195insACCCGCTGCACA
ENST00000301633.8:c.*194_*195insACCCGCTGCACA	ENSP00000301633.3:n.*194_*195insACCCGCTGCACA
ENST00000350051.7:c.*194_*195insACCCGCTGCACA	ENSP00000324180.4:n.*194_*195insACCCGCTGCACA
ENST00000374948.6:c.*91_*92insACCCGCTGCACA	ENSP00000364086.1:n.*91_*92insACCCGCTGCACA
ENST00000589892.1:n.639_640insACCCGCTGCACA
NM_001012270.1:c.*91_*92insACCCGCTGCACA	NP_001012270.1:n.*91_*92insACCCGCTGCACA
NM_001012271.1:c.*194_*195insACCCGCTGCACA	NP_001012271.1:n.*194_*195insACCCGCTGCACA
NM_001168.2:c.*194_*195insACCCGCTGCACA	NP_001159.2:n.*194_*195insACCCGCTGCACA
XR_243654.3:n.825_826insACCCGCTGCACA
XR_934452.1:n.894_895insACCCGCTGCACA
XR_243654.5:n.825_826insACCCGCTGCACA
XR_934452.3:n.894_895insACCCGCTGCACA
NM_001168.3:c.*194_*195insACCCGCTGCACA MANE Select	NP_001159.2:n.*194_*195insACCCGCTGCACA
NM_001012270.2:c.*91_*92insACCCGCTGCACA	NP_001012270.1:n.*91_*92insACCCGCTGCACA
NM_001012271.2:c.*194_*195insACCCGCTGCACA	NP_001012271.1:n.*194_*195insACCCGCTGCACA