Canonical Allele Identifier: CA2619470212

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567387-GGGCACCTTCTCTCTGGGTGGGCGGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567390_57567417del , CM000674.2:g.57567390_57567417del	GRCh38
NC_000012.11:g.57961173_57961200del , CM000674.1:g.57961173_57961200del	GRCh37
NC_000012.10:g.56247440_56247467del	NCBI36
NG_008155.1:g.22327_22354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.590-104_590-77del MANE Select	ENSP00000408979.2:n.590-104_590-77del
ENST00000674619.1:c.590-104_590-77del	ENSP00000502270.1:n.590-104_590-77del
ENST00000676457.1:c.485-104_485-77del	ENSP00000501588.1:n.485-104_485-77del
ENST00000286452.5:c.323-104_323-77del	ENSP00000286452.5:n.323-104_323-77del
ENST00000455537.6:c.590-104_590-77del	ENSP00000408979.2:n.590-104_590-77del
NM_004984.2:c.590-104_590-77del	NP_004975.2:n.590-104_590-77del
NM_001354705.1:c.323-104_323-77del	NP_001341634.1:n.323-104_323-77del
NM_004984.3:c.590-104_590-77del	NP_004975.2:n.590-104_590-77del
XR_002957324.1:n.823-104_823-77del
NM_004984.4:c.590-104_590-77del MANE Select	NP_004975.2:n.590-104_590-77del
NM_001354705.2:c.323-104_323-77del	NP_001341634.1:n.323-104_323-77del