Canonical Allele Identifier: CA2276860732

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076533263
• gnomAD v4: 17-78224050-TGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224051_78224054del , CM000679.2:g.78224051_78224054del	GRCh38
NC_000017.10:g.76220132_76220135del , CM000679.1:g.76220132_76220135del	GRCh37
NC_000017.9:g.73731727_73731730del	NCBI36
NG_029069.1:g.14856_14859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*497_*500del MANE Select	ENSP00000324180.4:n.*497_*500del
ENST00000301633.8:c.*497_*500del	ENSP00000301633.3:n.*497_*500del
ENST00000350051.7:c.*497_*500del	ENSP00000324180.4:n.*497_*500del
ENST00000374948.6:c.*394_*397del	ENSP00000364086.1:n.*394_*397del
NM_001012270.1:c.*394_*397del	NP_001012270.1:n.*394_*397del
NM_001012271.1:c.*497_*500del	NP_001012271.1:n.*497_*500del
NM_001168.2:c.*497_*500del	NP_001159.2:n.*497_*500del
XR_243654.3:n.1128_1131del
XR_934452.1:n.1197_1200del
XR_243654.5:n.1128_1131del
XR_934452.3:n.1197_1200del
NM_001168.3:c.*497_*500del MANE Select	NP_001159.2:n.*497_*500del
NM_001012270.2:c.*394_*397del	NP_001012270.1:n.*394_*397del
NM_001012271.2:c.*497_*500del	NP_001012271.1:n.*497_*500del