Canonical Allele Identifier: CA2640133930

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223757-CTGGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223758_78223762del , CM000679.2:g.78223758_78223762del	GRCh38
NC_000017.10:g.76219839_76219843del , CM000679.1:g.76219839_76219843del	GRCh37
NC_000017.9:g.73731434_73731438del	NCBI36
NG_029069.1:g.14563_14567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*204_*208del MANE Select	ENSP00000324180.4:n.*204_*208del
ENST00000301633.8:c.*204_*208del	ENSP00000301633.3:n.*204_*208del
ENST00000350051.7:c.*204_*208del	ENSP00000324180.4:n.*204_*208del
ENST00000374948.6:c.*101_*105del	ENSP00000364086.1:n.*101_*105del
ENST00000589892.1:n.649_653del
NM_001012270.1:c.*101_*105del	NP_001012270.1:n.*101_*105del
NM_001012271.1:c.*204_*208del	NP_001012271.1:n.*204_*208del
NM_001168.2:c.*204_*208del	NP_001159.2:n.*204_*208del
XR_243654.3:n.835_839del
XR_934452.1:n.904_908del
XR_243654.5:n.835_839del
XR_934452.3:n.904_908del
NM_001168.3:c.*204_*208del MANE Select	NP_001159.2:n.*204_*208del
NM_001012270.2:c.*101_*105del	NP_001012270.1:n.*101_*105del
NM_001012271.2:c.*204_*208del	NP_001012271.1:n.*204_*208del