Canonical Allele Identifier: CA2619470321

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567412-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567414_57567416del , CM000674.2:g.57567414_57567416del	GRCh38
NC_000012.11:g.57961197_57961199del , CM000674.1:g.57961197_57961199del	GRCh37
NC_000012.10:g.56247464_56247466del	NCBI36
NG_008155.1:g.22351_22353del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.590-80_590-78del MANE Select	ENSP00000408979.2:n.590-80_590-78del
ENST00000674619.1:c.590-80_590-78del	ENSP00000502270.1:n.590-80_590-78del
ENST00000676457.1:c.485-80_485-78del	ENSP00000501588.1:n.485-80_485-78del
ENST00000286452.5:c.323-80_323-78del	ENSP00000286452.5:n.323-80_323-78del
ENST00000455537.6:c.590-80_590-78del	ENSP00000408979.2:n.590-80_590-78del
NM_004984.2:c.590-80_590-78del	NP_004975.2:n.590-80_590-78del
NM_001354705.1:c.323-80_323-78del	NP_001341634.1:n.323-80_323-78del
NM_004984.3:c.590-80_590-78del	NP_004975.2:n.590-80_590-78del
XR_002957324.1:n.823-80_823-78del
NM_004984.4:c.590-80_590-78del MANE Select	NP_004975.2:n.590-80_590-78del
NM_001354705.2:c.323-80_323-78del	NP_001341634.1:n.323-80_323-78del