Canonical Allele Identifier: CA6652658
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1240969
ClinVar RCV Id: RCV001643452
dbSNP Id: rs371727146
ExAC: 12:57961444 CTT / C
gnomAD v2: 12-57961444-CTT-C
gnomAD v3: 12-57567661-CTT-C
gnomAD v4: 12-57567661-CTT-C
MyVariant Identifiers: chr12:g.57961446_57961447del (hg19) chr12:g.57961445_57961446del (hg19) chr12:g.57567663_57567664del (hg38) chr12:g.57567662_57567663del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567677_57567678del , CM000674.2:g.57567677_57567678del GRCh38
NC_000012.11:g.57961460_57961461del , CM000674.1:g.57961460_57961461del GRCh37
NC_000012.10:g.56247727_56247728del NCBI36
NG_008155.1:g.22614_22615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.714+59_714+60del MANE Select ENSP00000408979.2:n.714+59_714+60del
ENST00000674619.1:c.714+59_714+60del ENSP00000502270.1:n.714+59_714+60del
ENST00000676457.1:c.609+59_609+60del ENSP00000501588.1:n.609+59_609+60del
ENST00000286452.5:c.447+59_447+60del ENSP00000286452.5:n.447+59_447+60del
ENST00000455537.6:c.714+59_714+60del ENSP00000408979.2:n.714+59_714+60del
NM_004984.2:c.714+59_714+60del NP_004975.2:n.714+59_714+60del
NM_001354705.1:c.447+59_447+60del NP_001341634.1:n.447+59_447+60del
NM_004984.3:c.714+59_714+60del NP_004975.2:n.714+59_714+60del
XR_002957324.1:n.947+59_947+60del
NM_004984.4:c.714+59_714+60del MANE Select NP_004975.2:n.714+59_714+60del
NM_001354705.2:c.447+59_447+60del NP_001341634.1:n.447+59_447+60del
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