Canonical Allele Identifier: CA2582341787
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2584453
ClinVar RCV Id: RCV003335893

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581896del , CM000674.2:g.57581896del GRCh38
NC_000012.11:g.57975679del , CM000674.1:g.57975679del GRCh37
NC_000012.10:g.56261946del NCBI36
NG_008155.1:g.36833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2936del MANE Select ENSP00000408979.2:p.Gly979GlufsTer?
ENST00000674619.1:c.2957del ENSP00000502270.1:p.Gly986GlufsTer?
ENST00000675697.1:c.27del
ENST00000675737.1:n.340del
ENST00000675882.1:n.2459del
ENST00000675929.1:n.1494del
ENST00000676055.1:c.27del
ENST00000676457.1:c.2831del ENSP00000501588.1:p.Gly944GlufsTer?
ENST00000286452.5:c.2669del ENSP00000286452.5:p.Gly890GlufsTer?
ENST00000455537.6:c.2936del ENSP00000408979.2:p.Gly979GlufsTer?
ENST00000552227.1:n.219del
NM_004984.2:c.2936del NP_004975.2:p.Gly979GlufsTer?
NM_001354705.1:c.2669del NP_001341634.1:p.Gly890GlufsTer?
NM_004984.3:c.2936del NP_004975.2:p.Gly979GlufsTer?
XR_002957324.1:n.3169del
NM_004984.4:c.2936del MANE Select NP_004975.2:p.Gly979GlufsTer?
NM_001354705.2:c.2669del NP_001341634.1:p.Gly890GlufsTer?