Canonical Allele Identifier: CA2550612155
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581824_57581833del , CM000674.2:g.57581824_57581833del GRCh38
NC_000012.11:g.57975607_57975616del , CM000674.1:g.57975607_57975616del GRCh37
NC_000012.10:g.56261874_56261883del NCBI36
NG_008155.1:g.36761_36770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2910-46_2910-37del MANE Select ENSP00000408979.2:n.2910-46_2910-37del
ENST00000674619.1:c.2931-46_2931-37del ENSP00000502270.1:n.2931-46_2931-37del
ENST00000675737.1:n.314-46_314-37del
ENST00000675882.1:n.2387_2396del
ENST00000675929.1:n.1468-46_1468-37del
ENST00000676457.1:c.2805-46_2805-37del ENSP00000501588.1:n.2805-46_2805-37del
ENST00000286452.5:c.2643-46_2643-37del ENSP00000286452.5:n.2643-46_2643-37del
ENST00000455537.6:c.2910-46_2910-37del ENSP00000408979.2:n.2910-46_2910-37del
ENST00000552227.1:n.147_156del
NM_004984.2:c.2910-46_2910-37del NP_004975.2:n.2910-46_2910-37del
NM_001354705.1:c.2643-46_2643-37del NP_001341634.1:n.2643-46_2643-37del
NM_004984.3:c.2910-46_2910-37del NP_004975.2:n.2910-46_2910-37del
XR_002957324.1:n.3143-46_3143-37del
NM_004984.4:c.2910-46_2910-37del MANE Select NP_004975.2:n.2910-46_2910-37del
NM_001354705.2:c.2643-46_2643-37del NP_001341634.1:n.2643-46_2643-37del