Canonical Allele Identifier: CA2619470376

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567415-T-TGGGGGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567419_57567420insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.57567419_57567420insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.57961202_57961203insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.57961202_57961203insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.56247469_56247470insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008155.1:g.22356_22357insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000408979.2:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGG...
ENST00000674619.1:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	ENSP00000502270.1:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGG...
ENST00000676457.1:c.485-75_485-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	ENSP00000501588.1:n.485-75_485-74insGGGGGGGCACCTTTTTGGGGGGGGG...
ENST00000286452.5:c.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	ENSP00000286452.5:n.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGG...
ENST00000455537.6:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	ENSP00000408979.2:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGG...
NM_004984.2:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	NP_004975.2:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGG...
NM_001354705.1:c.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	NP_001341634.1:n.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGG...
NM_004984.3:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	NP_004975.2:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGG...
XR_002957324.1:n.823-75_823-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG
NM_004984.4:c.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_004975.2:n.590-75_590-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGG...
NM_001354705.2:c.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGGGGGGGGGGGG	NP_001341634.1:n.323-75_323-74insGGGGGGGCACCTTTTTGGGGGGGGGGGG...