Canonical Allele Identifier: CA502087178

Gene: BIRC5

Linked Data

• dbSNP Id: rs1224934902
• gnomAD v2: 17-76220144-TG-T
• gnomAD v3: 17-78224063-TG-T
• gnomAD v4: 17-78224063-TG-T
• COSMIC: COSN20114492
• MyVariant Identifiers: chr17:g.76220145del (hg19) ; chr17:g.78224064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224064del , CM000679.2:g.78224064del	GRCh38
NC_000017.10:g.76220145del , CM000679.1:g.76220145del	GRCh37
NC_000017.9:g.73731740del	NCBI36
NG_029069.1:g.14869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*510del MANE Select	ENSP00000324180.4:n.*510del
ENST00000301633.8:c.*510del	ENSP00000301633.3:n.*510del
ENST00000350051.7:c.*510del	ENSP00000324180.4:n.*510del
ENST00000374948.6:c.*407del	ENSP00000364086.1:n.*407del
NM_001012270.1:c.*407del	NP_001012270.1:n.*407del
NM_001012271.1:c.*510del	NP_001012271.1:n.*510del
NM_001168.2:c.*510del	NP_001159.2:n.*510del
XR_243654.3:n.1141del
XR_934452.1:n.1210del
XR_243654.5:n.1141del
XR_934452.3:n.1210del
NM_001168.3:c.*510del MANE Select	NP_001159.2:n.*510del
NM_001012270.2:c.*407del	NP_001012270.1:n.*407del
NM_001012271.2:c.*510del	NP_001012271.1:n.*510del