Canonical Allele Identifier: CA948104465
Gene: KIF5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567678_57567679del , CM000674.2:g.57567678_57567679del GRCh38
NC_000012.11:g.57961461_57961462del , CM000674.1:g.57961461_57961462del GRCh37
NC_000012.10:g.56247728_56247729del NCBI36
NG_008155.1:g.22615_22616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.714+60_714+61del MANE Select ENSP00000408979.2:n.714+60_714+61del
ENST00000674619.1:c.714+60_714+61del ENSP00000502270.1:n.714+60_714+61del
ENST00000676457.1:c.609+60_609+61del ENSP00000501588.1:n.609+60_609+61del
ENST00000286452.5:c.447+60_447+61del ENSP00000286452.5:n.447+60_447+61del
ENST00000455537.6:c.714+60_714+61del ENSP00000408979.2:n.714+60_714+61del
NM_004984.2:c.714+60_714+61del NP_004975.2:n.714+60_714+61del
NM_001354705.1:c.447+60_447+61del NP_001341634.1:n.447+60_447+61del
NM_004984.3:c.714+60_714+61del NP_004975.2:n.714+60_714+61del
XR_002957324.1:n.947+60_947+61del
NM_004984.4:c.714+60_714+61del MANE Select NP_004975.2:n.714+60_714+61del
NM_001354705.2:c.447+60_447+61del NP_001341634.1:n.447+60_447+61del