Canonical Allele Identifier: CA2038921968

Gene: KIF5A

Linked Data

• dbSNP Id: rs371727146
• gnomAD v4: 12-57567661-C-CTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567675_57567678dup , CM000674.2:g.57567675_57567678dup	GRCh38
NC_000012.11:g.57961458_57961461dup , CM000674.1:g.57961458_57961461dup	GRCh37
NC_000012.10:g.56247725_56247728dup	NCBI36
NG_008155.1:g.22612_22615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+57_714+60dup MANE Select	ENSP00000408979.2:n.714+57_714+60dup
ENST00000674619.1:c.714+57_714+60dup	ENSP00000502270.1:n.714+57_714+60dup
ENST00000676457.1:c.609+57_609+60dup	ENSP00000501588.1:n.609+57_609+60dup
ENST00000286452.5:c.447+57_447+60dup	ENSP00000286452.5:n.447+57_447+60dup
ENST00000455537.6:c.714+57_714+60dup	ENSP00000408979.2:n.714+57_714+60dup
NM_004984.2:c.714+57_714+60dup	NP_004975.2:n.714+57_714+60dup
NM_001354705.1:c.447+57_447+60dup	NP_001341634.1:n.447+57_447+60dup
NM_004984.3:c.714+57_714+60dup	NP_004975.2:n.714+57_714+60dup
XR_002957324.1:n.947+57_947+60dup
NM_004984.4:c.714+57_714+60dup MANE Select	NP_004975.2:n.714+57_714+60dup
NM_001354705.2:c.447+57_447+60dup	NP_001341634.1:n.447+57_447+60dup