Canonical Allele Identifier: CA690303368

Gene: KIF5A

Linked Data

• dbSNP Id: rs1172226496
• gnomAD v3: 12-57568848-T-TC
• gnomAD v4: 12-57568848-T-TC
• MyVariant Identifiers: chr12:g.57962631_57962632insC (hg19) ; chr12:g.57568848_57568849insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568850dup , CM000674.2:g.57568850dup	GRCh38
NC_000012.11:g.57962633dup , CM000674.1:g.57962633dup	GRCh37
NC_000012.10:g.56248900dup	NCBI36
NG_008155.1:g.23787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-113dup MANE Select	ENSP00000408979.2:n.715-113dup
ENST00000674619.1:c.715-113dup	ENSP00000502270.1:n.715-113dup
ENST00000676457.1:c.610-113dup	ENSP00000501588.1:n.610-113dup
ENST00000286452.5:c.448-113dup	ENSP00000286452.5:n.448-113dup
ENST00000455537.6:c.715-113dup	ENSP00000408979.2:n.715-113dup
NM_004984.2:c.715-113dup	NP_004975.2:n.715-113dup
NM_001354705.1:c.448-113dup	NP_001341634.1:n.448-113dup
NM_004984.3:c.715-113dup	NP_004975.2:n.715-113dup
XR_002957324.1:n.948-113dup
NM_004984.4:c.715-113dup MANE Select	NP_004975.2:n.715-113dup
NM_001354705.2:c.448-113dup	NP_001341634.1:n.448-113dup