Canonical Allele Identifier: CA948103860

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882098828
• gnomAD v3: 12-57567415-T-TGGGG
• gnomAD v4: 12-57567415-T-TGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567416_57567419dup , CM000674.2:g.57567416_57567419dup	GRCh38
NC_000012.11:g.57961199_57961202dup , CM000674.1:g.57961199_57961202dup	GRCh37
NC_000012.10:g.56247466_56247469dup	NCBI36
NG_008155.1:g.22353_22356dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.590-78_590-75dup MANE Select	ENSP00000408979.2:n.590-78_590-75dup
ENST00000674619.1:c.590-78_590-75dup	ENSP00000502270.1:n.590-78_590-75dup
ENST00000676457.1:c.485-78_485-75dup	ENSP00000501588.1:n.485-78_485-75dup
ENST00000286452.5:c.323-78_323-75dup	ENSP00000286452.5:n.323-78_323-75dup
ENST00000455537.6:c.590-78_590-75dup	ENSP00000408979.2:n.590-78_590-75dup
NM_004984.2:c.590-78_590-75dup	NP_004975.2:n.590-78_590-75dup
NM_001354705.1:c.323-78_323-75dup	NP_001341634.1:n.323-78_323-75dup
NM_004984.3:c.590-78_590-75dup	NP_004975.2:n.590-78_590-75dup
XR_002957324.1:n.823-78_823-75dup
NM_004984.4:c.590-78_590-75dup MANE Select	NP_004975.2:n.590-78_590-75dup
NM_001354705.2:c.323-78_323-75dup	NP_001341634.1:n.323-78_323-75dup