Canonical Allele Identifier: CA2838852364
Gene: BIRC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223602dup , CM000679.2:g.78223602dup GRCh38
NC_000017.10:g.76219683dup , CM000679.1:g.76219683dup GRCh37
NC_000017.9:g.73731278dup NCBI36
NG_029069.1:g.14407dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.*48dup MANE Select ENSP00000324180.4:n.*48dup
ENST00000301633.8:c.*48dup ENSP00000301633.3:n.*48dup
ENST00000350051.7:c.*48dup ENSP00000324180.4:n.*48dup
ENST00000374948.6:c.359dup ENSP00000364086.1:p.Leu122PhefsTer?
ENST00000589892.1:n.493dup
NM_001012270.1:c.359dup NP_001012270.1:p.Leu122PhefsTer?
NM_001012271.1:c.*48dup NP_001012271.1:n.*48dup
NM_001168.2:c.*48dup NP_001159.2:n.*48dup
XR_243654.3:n.679dup
XR_934452.1:n.748dup
XR_243654.5:n.679dup
XR_934452.3:n.748dup
NM_001168.3:c.*48dup MANE Select NP_001159.2:n.*48dup
NM_001012270.2:c.359dup NP_001012270.1:p.Leu122PhefsTer?
NM_001012271.2:c.*48dup NP_001012271.1:n.*48dup