Canonical Allele Identifier: CA605310669

Gene: KIF5A

Linked Data

• dbSNP Id: rs1483995078
• gnomAD v2: 12-57961413-TGTGGATATGGG-T
• gnomAD v4: 12-57567630-TGTGGATATGGG-T
• MyVariant Identifiers: chr12:g.57961414_57961424del (hg19) ; chr12:g.57567631_57567641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567635_57567645del , CM000674.2:g.57567635_57567645del	GRCh38
NC_000012.11:g.57961418_57961428del , CM000674.1:g.57961418_57961428del	GRCh37
NC_000012.10:g.56247685_56247695del	NCBI36
NG_008155.1:g.22572_22582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+17_714+27del MANE Select	ENSP00000408979.2:n.714+17_714+27del
ENST00000674619.1:c.714+17_714+27del	ENSP00000502270.1:n.714+17_714+27del
ENST00000676457.1:c.609+17_609+27del	ENSP00000501588.1:n.609+17_609+27del
ENST00000286452.5:c.447+17_447+27del	ENSP00000286452.5:n.447+17_447+27del
ENST00000455537.6:c.714+17_714+27del	ENSP00000408979.2:n.714+17_714+27del
NM_004984.2:c.714+17_714+27del	NP_004975.2:n.714+17_714+27del
NM_001354705.1:c.447+17_447+27del	NP_001341634.1:n.447+17_447+27del
NM_004984.3:c.714+17_714+27del	NP_004975.2:n.714+17_714+27del
XR_002957324.1:n.947+17_947+27del
NM_004984.4:c.714+17_714+27del MANE Select	NP_004975.2:n.714+17_714+27del
NM_001354705.2:c.447+17_447+27del	NP_001341634.1:n.447+17_447+27del