Canonical Allele Identifier: CA294307601

Gene: BIRC5

Linked Data

• dbSNP Id: rs564831547
• gnomAD v2: 17-76220222-TAAC-T
• gnomAD v3: 17-78224141-TAAC-T
• gnomAD v4: 17-78224141-TAAC-T
• MyVariant Identifiers: chr17:g.76220223_76220225del (hg19) ; chr17:g.78224142_78224144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224146_78224148del , CM000679.2:g.78224146_78224148del	GRCh38
NC_000017.10:g.76220227_76220229del , CM000679.1:g.76220227_76220229del	GRCh37
NC_000017.9:g.73731822_73731824del	NCBI36
NG_029069.1:g.14951_14953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*592_*594del MANE Select	ENSP00000324180.4:n.*592_*594del
ENST00000301633.8:c.*592_*594del	ENSP00000301633.3:n.*592_*594del
ENST00000350051.7:c.*592_*594del	ENSP00000324180.4:n.*592_*594del
ENST00000374948.6:c.*489_*491del	ENSP00000364086.1:n.*489_*491del
NM_001012270.1:c.*489_*491del	NP_001012270.1:n.*489_*491del
NM_001012271.1:c.*592_*594del	NP_001012271.1:n.*592_*594del
NM_001168.2:c.*592_*594del	NP_001159.2:n.*592_*594del
XR_243654.3:n.1223_1225del
XR_934452.1:n.1292_1294del
XR_243654.5:n.1223_1225del
XR_934452.3:n.1292_1294del
NM_001168.3:c.*592_*594del MANE Select	NP_001159.2:n.*592_*594del
NM_001012270.2:c.*489_*491del	NP_001012270.1:n.*489_*491del
NM_001012271.2:c.*592_*594del	NP_001012271.1:n.*592_*594del