Canonical Allele Identifier: CA2573148864

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1419860
• ClinVar RCV Id: RCV001910674
• dbSNP Id: rs2140172085

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581866_57581867delinsTT , CM000674.2:g.57581866_57581867delinsTT	GRCh38
NC_000012.11:g.57975649_57975650delinsTT , CM000674.1:g.57975649_57975650delinsTT	GRCh37
NC_000012.10:g.56261916_56261917delinsTT	NCBI36
NG_008155.1:g.36803_36804delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-4_2910-3delinsTT MANE Select	ENSP00000408979.2:n.2910-4_2910-3delinsTT
ENST00000674619.1:c.2931-4_2931-3delinsTT	ENSP00000502270.1:n.2931-4_2931-3delinsTT
ENST00000675737.1:n.314-4_314-3delinsTT
ENST00000675882.1:n.2429_2430delinsTT
ENST00000675929.1:n.1468-4_1468-3delinsTT
ENST00000676457.1:c.2805-4_2805-3delinsTT	ENSP00000501588.1:n.2805-4_2805-3delinsTT
ENST00000286452.5:c.2643-4_2643-3delinsTT	ENSP00000286452.5:n.2643-4_2643-3delinsTT
ENST00000455537.6:c.2910-4_2910-3delinsTT	ENSP00000408979.2:n.2910-4_2910-3delinsTT
ENST00000552227.1:n.189_190delinsTT
NM_004984.2:c.2910-4_2910-3delinsTT	NP_004975.2:n.2910-4_2910-3delinsTT
NM_001354705.1:c.2643-4_2643-3delinsTT	NP_001341634.1:n.2643-4_2643-3delinsTT
NM_004984.3:c.2910-4_2910-3delinsTT	NP_004975.2:n.2910-4_2910-3delinsTT
XR_002957324.1:n.3143-4_3143-3delinsTT
NM_004984.4:c.2910-4_2910-3delinsTT MANE Select	NP_004975.2:n.2910-4_2910-3delinsTT
NM_001354705.2:c.2643-4_2643-3delinsTT	NP_001341634.1:n.2643-4_2643-3delinsTT