Canonical Allele Identifier: CA294307194

Gene: BIRC5

Linked Data

• dbSNP Id: rs369792774
• gnomAD v2: 17-76219855-T-TTC
• gnomAD v3: 17-78223774-T-TTC
• gnomAD v4: 17-78223774-T-TTC
• MyVariant Identifiers: chr17:g.76219859_76219860insTC (hg19) ; chr17:g.76219855_76219856insTC (hg19) ; chr17:g.78223778_78223779insTC (hg38) ; chr17:g.78223774_78223775insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223790_78223791dup , CM000679.2:g.78223790_78223791dup	GRCh38
NC_000017.10:g.76219871_76219872dup , CM000679.1:g.76219871_76219872dup	GRCh37
NC_000017.9:g.73731466_73731467dup	NCBI36
NG_029069.1:g.14595_14596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*236_*237dup MANE Select	ENSP00000324180.4:n.*236_*237dup
ENST00000301633.8:c.*236_*237dup	ENSP00000301633.3:n.*236_*237dup
ENST00000350051.7:c.*236_*237dup	ENSP00000324180.4:n.*236_*237dup
ENST00000374948.6:c.*133_*134dup	ENSP00000364086.1:n.*133_*134dup
ENST00000589892.1:n.681_682dup
NM_001012270.1:c.*133_*134dup	NP_001012270.1:n.*133_*134dup
NM_001012271.1:c.*236_*237dup	NP_001012271.1:n.*236_*237dup
NM_001168.2:c.*236_*237dup	NP_001159.2:n.*236_*237dup
XR_243654.3:n.867_868dup
XR_934452.1:n.936_937dup
XR_243654.5:n.867_868dup
XR_934452.3:n.936_937dup
NM_001168.3:c.*236_*237dup MANE Select	NP_001159.2:n.*236_*237dup
NM_001012270.2:c.*133_*134dup	NP_001012270.1:n.*133_*134dup
NM_001012271.2:c.*236_*237dup	NP_001012271.1:n.*236_*237dup