Canonical Allele Identifier: CA690303365

Gene: KIF5A

Linked Data

• dbSNP Id: rs1363437532
• gnomAD v4: 12-57568837-ATC-A
• MyVariant Identifiers: chr12:g.57962621_57962622del (hg19) ; chr12:g.57568838_57568839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568841_57568842del , CM000674.2:g.57568841_57568842del	GRCh38
NC_000012.11:g.57962624_57962625del , CM000674.1:g.57962624_57962625del	GRCh37
NC_000012.10:g.56248891_56248892del	NCBI36
NG_008155.1:g.23778_23779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-122_715-121del MANE Select	ENSP00000408979.2:n.715-122_715-121del
ENST00000674619.1:c.715-122_715-121del	ENSP00000502270.1:n.715-122_715-121del
ENST00000676457.1:c.610-122_610-121del	ENSP00000501588.1:n.610-122_610-121del
ENST00000286452.5:c.448-122_448-121del	ENSP00000286452.5:n.448-122_448-121del
ENST00000455537.6:c.715-122_715-121del	ENSP00000408979.2:n.715-122_715-121del
NM_004984.2:c.715-122_715-121del	NP_004975.2:n.715-122_715-121del
NM_001354705.1:c.448-122_448-121del	NP_001341634.1:n.448-122_448-121del
NM_004984.3:c.715-122_715-121del	NP_004975.2:n.715-122_715-121del
XR_002957324.1:n.948-122_948-121del
NM_004984.4:c.715-122_715-121del MANE Select	NP_004975.2:n.715-122_715-121del
NM_001354705.2:c.448-122_448-121del	NP_001341634.1:n.448-122_448-121del