Canonical Allele Identifier: CA2640134458

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223933-CTCATGTTGTTGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223934_78223947del , CM000679.2:g.78223934_78223947del	GRCh38
NC_000017.10:g.76220015_76220028del , CM000679.1:g.76220015_76220028del	GRCh37
NC_000017.9:g.73731610_73731623del	NCBI36
NG_029069.1:g.14739_14752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*380_*393del MANE Select	ENSP00000324180.4:n.*380_*393del
ENST00000301633.8:c.*380_*393del	ENSP00000301633.3:n.*380_*393del
ENST00000350051.7:c.*380_*393del	ENSP00000324180.4:n.*380_*393del
ENST00000374948.6:c.*277_*290del	ENSP00000364086.1:n.*277_*290del
NM_001012270.1:c.*277_*290del	NP_001012270.1:n.*277_*290del
NM_001012271.1:c.*380_*393del	NP_001012271.1:n.*380_*393del
NM_001168.2:c.*380_*393del	NP_001159.2:n.*380_*393del
XR_243654.3:n.1011_1024del
XR_934452.1:n.1080_1093del
XR_243654.5:n.1011_1024del
XR_934452.3:n.1080_1093del
NM_001168.3:c.*380_*393del MANE Select	NP_001159.2:n.*380_*393del
NM_001012270.2:c.*277_*290del	NP_001012270.1:n.*277_*290del
NM_001012271.2:c.*380_*393del	NP_001012271.1:n.*380_*393del