Canonical Allele Identifier: CA2038910405

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581830_57581844delinsGTGGGTGTCAGAGGC , CM000674.2:g.57581830_57581844delinsGTGGGTGTCAGAGGC	GRCh38
NC_000012.11:g.57975613_57975627delinsGTGGGTGTCAGAGGC , CM000674.1:g.57975613_57975627delinsGTGGGTGTCAGAGGC	GRCh37
NC_000012.10:g.56261880_56261894delinsGTGGGTGTCAGAGGC	NCBI36
NG_008155.1:g.36767_36781delinsGTGGGTGTCAGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-40_2910-26delinsGTGGGTGTCAGAGGC MANE Select	ENSP00000408979.2:n.2910-40_2910-26delinsGTGGGTGTCAGAGGC
ENST00000674619.1:c.2931-40_2931-26delinsGTGGGTGTCAGAGGC	ENSP00000502270.1:n.2931-40_2931-26delinsGTGGGTGTCAGAGGC
ENST00000675737.1:n.314-40_314-26delinsGTGGGTGTCAGAGGC
ENST00000675882.1:n.2393_2407delinsGTGGGTGTCAGAGGC
ENST00000675929.1:n.1468-40_1468-26delinsGTGGGTGTCAGAGGC
ENST00000676457.1:c.2805-40_2805-26delinsGTGGGTGTCAGAGGC	ENSP00000501588.1:n.2805-40_2805-26delinsGTGGGTGTCAGAGGC
ENST00000286452.5:c.2643-40_2643-26delinsGTGGGTGTCAGAGGC	ENSP00000286452.5:n.2643-40_2643-26delinsGTGGGTGTCAGAGGC
ENST00000455537.6:c.2910-40_2910-26delinsGTGGGTGTCAGAGGC	ENSP00000408979.2:n.2910-40_2910-26delinsGTGGGTGTCAGAGGC
ENST00000552227.1:n.153_167delinsGTGGGTGTCAGAGGC
NM_004984.2:c.2910-40_2910-26delinsGTGGGTGTCAGAGGC	NP_004975.2:n.2910-40_2910-26delinsGTGGGTGTCAGAGGC
NM_001354705.1:c.2643-40_2643-26delinsGTGGGTGTCAGAGGC	NP_001341634.1:n.2643-40_2643-26delinsGTGGGTGTCAGAGGC
NM_004984.3:c.2910-40_2910-26delinsGTGGGTGTCAGAGGC	NP_004975.2:n.2910-40_2910-26delinsGTGGGTGTCAGAGGC
XR_002957324.1:n.3143-40_3143-26delinsGTGGGTGTCAGAGGC
NM_004984.4:c.2910-40_2910-26delinsGTGGGTGTCAGAGGC MANE Select	NP_004975.2:n.2910-40_2910-26delinsGTGGGTGTCAGAGGC
NM_001354705.2:c.2643-40_2643-26delinsGTGGGTGTCAGAGGC	NP_001341634.1:n.2643-40_2643-26delinsGTGGGTGTCAGAGGC