Canonical Allele Identifier: CA2619471305

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57568841-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568843_57568844del , CM000674.2:g.57568843_57568844del	GRCh38
NC_000012.11:g.57962626_57962627del , CM000674.1:g.57962626_57962627del	GRCh37
NC_000012.10:g.56248893_56248894del	NCBI36
NG_008155.1:g.23780_23781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-120_715-119del MANE Select	ENSP00000408979.2:n.715-120_715-119del
ENST00000674619.1:c.715-120_715-119del	ENSP00000502270.1:n.715-120_715-119del
ENST00000676457.1:c.610-120_610-119del	ENSP00000501588.1:n.610-120_610-119del
ENST00000286452.5:c.448-120_448-119del	ENSP00000286452.5:n.448-120_448-119del
ENST00000455537.6:c.715-120_715-119del	ENSP00000408979.2:n.715-120_715-119del
NM_004984.2:c.715-120_715-119del	NP_004975.2:n.715-120_715-119del
NM_001354705.1:c.448-120_448-119del	NP_001341634.1:n.448-120_448-119del
NM_004984.3:c.715-120_715-119del	NP_004975.2:n.715-120_715-119del
XR_002957324.1:n.948-120_948-119del
NM_004984.4:c.715-120_715-119del MANE Select	NP_004975.2:n.715-120_715-119del
NM_001354705.2:c.448-120_448-119del	NP_001341634.1:n.448-120_448-119del