Canonical Allele Identifier: CA2038910250
Gene: KIF5A HGNC NCBI

Linked Data

dbSNP Id: rs1882609129

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581741_57581744del , CM000674.2:g.57581741_57581744del GRCh38
NC_000012.11:g.57975524_57975527del , CM000674.1:g.57975524_57975527del GRCh37
NC_000012.10:g.56261791_56261794del NCBI36
NG_008155.1:g.36678_36681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2910-129_2910-126del MANE Select ENSP00000408979.2:n.2910-129_2910-126del
ENST00000674619.1:c.2931-129_2931-126del ENSP00000502270.1:n.2931-129_2931-126del
ENST00000675737.1:n.314-129_314-126del
ENST00000675882.1:n.2304_2307del
ENST00000675929.1:n.1468-129_1468-126del
ENST00000676457.1:c.2805-129_2805-126del ENSP00000501588.1:n.2805-129_2805-126del
ENST00000286452.5:c.2643-129_2643-126del ENSP00000286452.5:n.2643-129_2643-126del
ENST00000455537.6:c.2910-129_2910-126del ENSP00000408979.2:n.2910-129_2910-126del
ENST00000552227.1:n.64_67del
NM_004984.2:c.2910-129_2910-126del NP_004975.2:n.2910-129_2910-126del
NM_001354705.1:c.2643-129_2643-126del NP_001341634.1:n.2643-129_2643-126del
NM_004984.3:c.2910-129_2910-126del NP_004975.2:n.2910-129_2910-126del
XR_002957324.1:n.3143-129_3143-126del
NM_004984.4:c.2910-129_2910-126del MANE Select NP_004975.2:n.2910-129_2910-126del
NM_001354705.2:c.2643-129_2643-126del NP_001341634.1:n.2643-129_2643-126del