Canonical Allele Identifier: CA294307450

Gene: BIRC5

Linked Data

• dbSNP Id: rs146639575
• gnomAD v2: 17-76220126-TTTG-T
• gnomAD v3: 17-78224045-TTTG-T
• gnomAD v4: 17-78224045-TTTG-T
• COSMIC: COSN20114489 ; COSN20114490
• MyVariant Identifiers: chr17:g.76220127_76220129del (hg19) ; chr17:g.78224046_78224048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224053_78224055del , CM000679.2:g.78224053_78224055del	GRCh38
NC_000017.10:g.76220134_76220136del , CM000679.1:g.76220134_76220136del	GRCh37
NC_000017.9:g.73731729_73731731del	NCBI36
NG_029069.1:g.14858_14860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*499_*501del MANE Select	ENSP00000324180.4:n.*499_*501del
ENST00000301633.8:c.*499_*501del	ENSP00000301633.3:n.*499_*501del
ENST00000350051.7:c.*499_*501del	ENSP00000324180.4:n.*499_*501del
ENST00000374948.6:c.*396_*398del	ENSP00000364086.1:n.*396_*398del
NM_001012270.1:c.*396_*398del	NP_001012270.1:n.*396_*398del
NM_001012271.1:c.*499_*501del	NP_001012271.1:n.*499_*501del
NM_001168.2:c.*499_*501del	NP_001159.2:n.*499_*501del
XR_243654.3:n.1130_1132del
XR_934452.1:n.1199_1201del
XR_243654.5:n.1130_1132del
XR_934452.3:n.1199_1201del
NM_001168.3:c.*499_*501del MANE Select	NP_001159.2:n.*499_*501del
NM_001012270.2:c.*396_*398del	NP_001012270.1:n.*396_*398del
NM_001012271.2:c.*499_*501del	NP_001012271.1:n.*499_*501del