Canonical Allele Identifier: CA16043808
Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 374597
ClinVar RCV Id: RCV000416001
dbSNP Id: rs1057519164

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240767316del , CM000664.2:g.240767316del GRCh38
NC_000002.11:g.241706733del , CM000664.1:g.241706733del GRCh37
NC_000002.10:g.241355406del NCBI36
NG_029724.1:g.57894del

Transcript Alleles

HGVS Amino-acid change
ENST00000320389.12:c.1502del ENSP00000322791.8:p.Pro501ArgfsTer2
ENST00000404283.9:c.1529del ENSP00000384231.5:p.Pro510ArgfsTer2
ENST00000498729.9:c.1529del MANE Select ENSP00000438388.1:p.Pro510ArgfsTer2
ENST00000647731.1:c.1502del ENSP00000498099.1:p.Pro501ArgfsTer2
ENST00000647885.1:c.1502del ENSP00000497739.1:p.Pro501ArgfsTer2
ENST00000648047.1:c.740del ENSP00000497935.1:p.Pro247ArgfsTer2
ENST00000648129.1:c.1502del ENSP00000497293.1:p.Pro501ArgfsTer2
ENST00000648364.1:c.1529del ENSP00000498196.1:p.Pro510ArgfsTer2
ENST00000648680.1:c.1529del ENSP00000497586.1:p.Pro510ArgfsTer2
ENST00000649064.1:n.1660del
ENST00000649096.1:c.1502del ENSP00000497030.1:p.Pro501ArgfsTer2
ENST00000649190.1:n.799del
ENST00000649306.1:c.1604del ENSP00000497678.1:p.Pro535ArgfsTer2
ENST00000649381.1:n.1755del
ENST00000650053.1:c.1502del ENSP00000497824.1:p.Pro501ArgfsTer2
ENST00000650130.1:c.1502del ENSP00000498082.1:p.Pro501ArgfsTer2
ENST00000650430.1:n.877del
ENST00000320389.11:c.1502del ENSP00000322791.7:p.Pro501ArgfsTer2
ENST00000404283.7:c.1529del ENSP00000384231.3:p.Pro510ArgfsTer2
ENST00000498729.6:c.1529del ENSP00000438388.1:p.Pro510ArgfsTer2
NM_001244008.1:c.1529del NP_001230937.1:p.Pro510ArgfsTer2
NM_004321.6:c.1502del NP_004312.2:p.Pro501ArgfsTer2
XM_005247022.1:c.1529del XP_005247079.1:p.Pro510ArgfsTer2
XM_005247023.1:c.1529del XP_005247080.1:p.Pro510ArgfsTer2
XM_005247024.1:c.1502del XP_005247081.1:p.Pro501ArgfsTer2
XM_005247026.1:c.1529del XP_005247083.1:p.Pro510ArgfsTer2
XM_005247027.1:c.1502del XP_005247084.1:p.Pro501ArgfsTer2
XM_005247028.1:c.1502del XP_005247085.1:p.Pro501ArgfsTer2
XM_006712605.1:c.1502del XP_006712668.1:p.Pro501ArgfsTer2
XM_011511364.1:c.1529del XP_011509666.1:p.Pro510ArgfsTer2
XM_011511365.1:c.1529del XP_011509667.1:p.Pro510ArgfsTer2
XM_011511366.1:c.524del XP_011509668.1:p.Pro175ArgfsTer2
XM_011511367.1:c.524del XP_011509669.1:p.Pro175ArgfsTer2
NM_001320705.1:c.1529del NP_001307634.1:p.Pro510ArgfsTer2
NM_001330289.1:c.1529del NP_001317218.1:p.Pro510ArgfsTer2
NM_001330290.1:c.1604del NP_001317219.1:p.Pro535ArgfsTer2
NM_004321.7:c.1502del NP_004312.2:p.Pro501ArgfsTer2
NM_001320705.2:c.1529del NP_001307634.1:p.Pro510ArgfsTer2
NM_001330289.2:c.1529del NP_001317218.1:p.Pro510ArgfsTer2
NM_001330290.2:c.1604del NP_001317219.1:p.Pro535ArgfsTer2
NM_001244008.2:c.1529del MANE Select NP_001230937.1:p.Pro510ArgfsTer2
NM_001379631.1:c.1604del NP_001366560.1:p.Pro535ArgfsTer2
NM_001379632.1:c.1502del NP_001366561.1:p.Pro501ArgfsTer2
NM_001379633.1:c.1502del NP_001366562.1:p.Pro501ArgfsTer2
NM_001379634.1:c.1604del NP_001366563.1:p.Pro535ArgfsTer2
NM_001379635.1:c.1604del NP_001366564.1:p.Pro535ArgfsTer2
NM_001379636.1:c.1502del NP_001366565.1:p.Pro501ArgfsTer2
NM_001379637.1:c.1577del NP_001366566.1:p.Pro526ArgfsTer2
NM_001379638.1:c.1529del NP_001366567.1:p.Pro510ArgfsTer2
NM_001379639.1:c.1502del NP_001366568.1:p.Pro501ArgfsTer2
NM_001379640.1:c.1502del NP_001366569.1:p.Pro501ArgfsTer2
NM_001379641.1:c.1502del NP_001366570.1:p.Pro501ArgfsTer2
NM_001379642.1:c.1502del NP_001366571.1:p.Pro501ArgfsTer2
NM_001379645.1:c.1502del NP_001366574.1:p.Pro501ArgfsTer2
NM_001379646.1:c.1604del NP_001366575.1:p.Pro535ArgfsTer2
NM_001379648.1:c.1577del NP_001366577.1:p.Pro526ArgfsTer2
NM_001379649.1:c.1502del NP_001366578.1:p.Pro501ArgfsTer2
NM_001379650.1:c.1502del NP_001366579.1:p.Pro501ArgfsTer2
NM_001379651.1:c.1502del NP_001366580.1:p.Pro501ArgfsTer2
NM_001379653.1:c.1502del NP_001366582.1:p.Pro501ArgfsTer2
NM_004321.8:c.1502del NP_004312.2:p.Pro501ArgfsTer2