Canonical Allele Identifier: CA2575203713
Gene: KIF5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567661_57567662del , CM000674.2:g.57567661_57567662del GRCh38
NC_000012.11:g.57961444_57961445del , CM000674.1:g.57961444_57961445del GRCh37
NC_000012.10:g.56247711_56247712del NCBI36
NG_008155.1:g.22598_22599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.714+43_714+44del MANE Select ENSP00000408979.2:n.714+43_714+44del
ENST00000674619.1:c.714+43_714+44del ENSP00000502270.1:n.714+43_714+44del
ENST00000676457.1:c.609+43_609+44del ENSP00000501588.1:n.609+43_609+44del
ENST00000286452.5:c.447+43_447+44del ENSP00000286452.5:n.447+43_447+44del
ENST00000455537.6:c.714+43_714+44del ENSP00000408979.2:n.714+43_714+44del
NM_004984.2:c.714+43_714+44del NP_004975.2:n.714+43_714+44del
NM_001354705.1:c.447+43_447+44del NP_001341634.1:n.447+43_447+44del
NM_004984.3:c.714+43_714+44del NP_004975.2:n.714+43_714+44del
XR_002957324.1:n.947+43_947+44del
NM_004984.4:c.714+43_714+44del MANE Select NP_004975.2:n.714+43_714+44del
NM_001354705.2:c.447+43_447+44del NP_001341634.1:n.447+43_447+44del