Canonical Allele Identifier: CA2553752818
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581818_57581820del , CM000674.2:g.57581818_57581820del GRCh38
NC_000012.11:g.57975601_57975603del , CM000674.1:g.57975601_57975603del GRCh37
NC_000012.10:g.56261868_56261870del NCBI36
NG_008155.1:g.36755_36757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2910-52_2910-50del MANE Select ENSP00000408979.2:n.2910-52_2910-50del
ENST00000674619.1:c.2931-52_2931-50del ENSP00000502270.1:n.2931-52_2931-50del
ENST00000675737.1:n.314-52_314-50del
ENST00000675882.1:n.2381_2383del
ENST00000675929.1:n.1468-52_1468-50del
ENST00000676457.1:c.2805-52_2805-50del ENSP00000501588.1:n.2805-52_2805-50del
ENST00000286452.5:c.2643-52_2643-50del ENSP00000286452.5:n.2643-52_2643-50del
ENST00000455537.6:c.2910-52_2910-50del ENSP00000408979.2:n.2910-52_2910-50del
ENST00000552227.1:n.141_143del
NM_004984.2:c.2910-52_2910-50del NP_004975.2:n.2910-52_2910-50del
NM_001354705.1:c.2643-52_2643-50del NP_001341634.1:n.2643-52_2643-50del
NM_004984.3:c.2910-52_2910-50del NP_004975.2:n.2910-52_2910-50del
XR_002957324.1:n.3143-52_3143-50del
NM_004984.4:c.2910-52_2910-50del MANE Select NP_004975.2:n.2910-52_2910-50del
NM_001354705.2:c.2643-52_2643-50del NP_001341634.1:n.2643-52_2643-50del