Canonical Allele Identifier: CA628014622

Gene: BIRC5

Linked Data

• dbSNP Id: rs571445307
• gnomAD v2: 17-76220145-GTT-G
• gnomAD v3: 17-78224064-GTT-G
• gnomAD v4: 17-78224064-GTT-G
• COSMIC: COSN15657326 ; COSN15657368 ; COSN15657536
• MyVariant Identifiers: chr17:g.76220146_76220147del (hg19) ; chr17:g.78224065_78224066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224076_78224077del , CM000679.2:g.78224076_78224077del	GRCh38
NC_000017.10:g.76220157_76220158del , CM000679.1:g.76220157_76220158del	GRCh37
NC_000017.9:g.73731752_73731753del	NCBI36
NG_029069.1:g.14881_14882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*522_*523del MANE Select	ENSP00000324180.4:n.*522_*523del
ENST00000301633.8:c.*522_*523del	ENSP00000301633.3:n.*522_*523del
ENST00000350051.7:c.*522_*523del	ENSP00000324180.4:n.*522_*523del
ENST00000374948.6:c.*419_*420del	ENSP00000364086.1:n.*419_*420del
NM_001012270.1:c.*419_*420del	NP_001012270.1:n.*419_*420del
NM_001012271.1:c.*522_*523del	NP_001012271.1:n.*522_*523del
NM_001168.2:c.*522_*523del	NP_001159.2:n.*522_*523del
XR_243654.3:n.1153_1154del
XR_934452.1:n.1222_1223del
XR_243654.5:n.1153_1154del
XR_934452.3:n.1222_1223del
NM_001168.3:c.*522_*523del MANE Select	NP_001159.2:n.*522_*523del
NM_001012270.2:c.*419_*420del	NP_001012270.1:n.*419_*420del
NM_001012271.2:c.*522_*523del	NP_001012271.1:n.*522_*523del