Canonical Allele Identifier: CA16042234
Gene: KIF5A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372189
ClinVar RCV Id: RCV000412656
dbSNP Id: rs1057517673

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581882del , CM000674.2:g.57581882del GRCh38
NC_000012.11:g.57975665del , CM000674.1:g.57975665del GRCh37
NC_000012.10:g.56261932del NCBI36
NG_008155.1:g.36819del

Transcript Alleles

HGVS Amino-acid change
NM_004984.2:c.2922del VV NP_004975.2:p.Cys975ValfsTer?
NM_001354705.1:c.2655del VV NP_001341634.1:p.Cys886ValfsTer?
NM_004984.3:c.2922del VV
XR_002957324.1:n.3155del
ENST00000286452.5:c.2655del ENSP00000286452.5:p.Cys886ValfsTer?
ENST00000455537.6:c.2922del ENSP00000408979.2:p.Cys975ValfsTer?
ENST00000552227.1:n.205del