Canonical Allele Identifier: CA2640134793

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224064-GTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224074_78224077del , CM000679.2:g.78224074_78224077del	GRCh38
NC_000017.10:g.76220155_76220158del , CM000679.1:g.76220155_76220158del	GRCh37
NC_000017.9:g.73731750_73731753del	NCBI36
NG_029069.1:g.14879_14882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*520_*523del MANE Select	ENSP00000324180.4:n.*520_*523del
ENST00000301633.8:c.*520_*523del	ENSP00000301633.3:n.*520_*523del
ENST00000350051.7:c.*520_*523del	ENSP00000324180.4:n.*520_*523del
ENST00000374948.6:c.*417_*420del	ENSP00000364086.1:n.*417_*420del
NM_001012270.1:c.*417_*420del	NP_001012270.1:n.*417_*420del
NM_001012271.1:c.*520_*523del	NP_001012271.1:n.*520_*523del
NM_001168.2:c.*520_*523del	NP_001159.2:n.*520_*523del
XR_243654.3:n.1151_1154del
XR_934452.1:n.1220_1223del
XR_243654.5:n.1151_1154del
XR_934452.3:n.1220_1223del
NM_001168.3:c.*520_*523del MANE Select	NP_001159.2:n.*520_*523del
NM_001012270.2:c.*417_*420del	NP_001012270.1:n.*417_*420del
NM_001012271.2:c.*520_*523del	NP_001012271.1:n.*520_*523del