Canonical Allele Identifier: CA2640133780

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223725-C-CTCTGGTGCCACTTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223725_78223726insTCTGGTGCCACTTTCA , CM000679.2:g.78223725_78223726insTCTGGTGCCACTTTCA	GRCh38
NC_000017.10:g.76219806_76219807insTCTGGTGCCACTTTCA , CM000679.1:g.76219806_76219807insTCTGGTGCCACTTTCA	GRCh37
NC_000017.9:g.73731401_73731402insTCTGGTGCCACTTTCA	NCBI36
NG_029069.1:g.14530_14531insTCTGGTGCCACTTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*171_*172insTCTGGTGCCACTTTCA MANE Select	ENSP00000324180.4:n.*171_*172insTCTGGTGCCACTTTCA
ENST00000301633.8:c.*171_*172insTCTGGTGCCACTTTCA	ENSP00000301633.3:n.*171_*172insTCTGGTGCCACTTTCA
ENST00000350051.7:c.*171_*172insTCTGGTGCCACTTTCA	ENSP00000324180.4:n.*171_*172insTCTGGTGCCACTTTCA
ENST00000374948.6:c.*68_*69insTCTGGTGCCACTTTCA	ENSP00000364086.1:n.*68_*69insTCTGGTGCCACTTTCA
ENST00000589892.1:n.616_617insTCTGGTGCCACTTTCA
NM_001012270.1:c.*68_*69insTCTGGTGCCACTTTCA	NP_001012270.1:n.*68_*69insTCTGGTGCCACTTTCA
NM_001012271.1:c.*171_*172insTCTGGTGCCACTTTCA	NP_001012271.1:n.*171_*172insTCTGGTGCCACTTTCA
NM_001168.2:c.*171_*172insTCTGGTGCCACTTTCA	NP_001159.2:n.*171_*172insTCTGGTGCCACTTTCA
XR_243654.3:n.802_803insTCTGGTGCCACTTTCA
XR_934452.1:n.871_872insTCTGGTGCCACTTTCA
XR_243654.5:n.802_803insTCTGGTGCCACTTTCA
XR_934452.3:n.871_872insTCTGGTGCCACTTTCA
NM_001168.3:c.*171_*172insTCTGGTGCCACTTTCA MANE Select	NP_001159.2:n.*171_*172insTCTGGTGCCACTTTCA
NM_001012270.2:c.*68_*69insTCTGGTGCCACTTTCA	NP_001012270.1:n.*68_*69insTCTGGTGCCACTTTCA
NM_001012271.2:c.*171_*172insTCTGGTGCCACTTTCA	NP_001012271.1:n.*171_*172insTCTGGTGCCACTTTCA