Canonical Allele Identifier: CA2573148856

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1481278
• ClinVar RCV Id: RCV002022263
• dbSNP Id: rs2140162546

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568978_57568979delinsAA , CM000674.2:g.57568978_57568979delinsAA	GRCh38
NC_000012.11:g.57962761_57962762delinsAA , CM000674.1:g.57962761_57962762delinsAA	GRCh37
NC_000012.10:g.56249028_56249029delinsAA	NCBI36
NG_008155.1:g.23915_23916delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.730_731delinsAA MANE Select	ENSP00000408979.2:p.Ala244Lys
ENST00000674619.1:c.730_731delinsAA	ENSP00000502270.1:p.Ala244Lys
ENST00000676457.1:c.625_626delinsAA	ENSP00000501588.1:p.Ala209Lys
ENST00000286452.5:c.463_464delinsAA	ENSP00000286452.5:p.Ala155Lys
ENST00000455537.6:c.730_731delinsAA	ENSP00000408979.2:p.Ala244Lys
NM_004984.2:c.730_731delinsAA	NP_004975.2:p.Ala244Lys
NM_001354705.1:c.463_464delinsAA	NP_001341634.1:p.Ala155Lys
NM_004984.3:c.730_731delinsAA	NP_004975.2:p.Ala244Lys
XR_002957324.1:n.963_964delinsAA
NM_004984.4:c.730_731delinsAA MANE Select	NP_004975.2:p.Ala244Lys
NM_001354705.2:c.463_464delinsAA	NP_001341634.1:p.Ala155Lys