Canonical Allele Identifier: CA3054210754
Community Standard Title: NM_001244008.2(KIF1A):c.5349_5351del (p.Arg1785del)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240717391_240717393del , CM000664.2:g.240717391_240717393del GRCh38
NC_000002.11:g.241656808_241656810del , CM000664.1:g.241656808_241656810del GRCh37
NC_000002.10:g.241305481_241305483del NCBI36
NG_029724.1:g.107817_107819del

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5349_5351del MANE Select NP_001230937.1:p.Arg1784del
ENST00000498729.9:c.5349_5351del MANE Select ENSP00000438388.1:p.Arg1784del
NM_001244008.1:c.5349_5351del NP_001230937.1:p.Arg1784del
NM_001320705.1:c.5073_5075del NP_001307634.1:p.Arg1692del
NM_001320705.2:c.5073_5075del NP_001307634.1:p.Arg1692del
NM_001330289.1:c.5100_5102del NP_001317218.1:p.Arg1701del
NM_001330289.2:c.5100_5102del NP_001317218.1:p.Arg1701del
NM_001330290.1:c.5148_5150del NP_001317219.1:p.Arg1717del
NM_001330290.2:c.5148_5150del NP_001317219.1:p.Arg1717del
NM_001379631.1:c.5424_5426del NP_001366560.1:p.Arg1809del
NM_001379632.1:c.5325_5327del NP_001366561.1:p.Arg1776del
NM_001379633.1:c.5322_5324del NP_001366562.1:p.Arg1775del
NM_001379634.1:c.5175_5177del NP_001366563.1:p.Arg1726del
NM_001379635.1:c.5172_5174del NP_001366564.1:p.Arg1725del
NM_001379636.1:c.5160_5162del NP_001366565.1:p.Arg1721del
NM_001379637.1:c.5121_5123del NP_001366566.1:p.Arg1708del
NM_001379638.1:c.5097_5099del NP_001366567.1:p.Arg1700del
NM_001379639.1:c.5070_5072del NP_001366568.1:p.Arg1691del
NM_001379640.1:c.5043_5045del NP_001366569.1:p.Arg1682del
NM_001379641.1:c.5010_5012del NP_001366570.1:p.Arg1671del
NM_001379642.1:c.5349_5351del NP_001366571.1:p.Arg1784del
NM_001379645.1:c.5322_5324del NP_001366574.1:p.Arg1775del
NM_001379646.1:c.5172_5174del NP_001366575.1:p.Arg1725del
NM_001379648.1:c.5148_5150del NP_001366577.1:p.Arg1717del
NM_001379649.1:c.5073_5075del NP_001366578.1:p.Arg1692del
NM_001379650.1:c.5046_5048del NP_001366579.1:p.Arg1683del
NM_001379651.1:c.5046_5048del NP_001366580.1:p.Arg1683del
NM_001379653.1:c.5046_5048del NP_001366582.1:p.Arg1683del
NM_004321.6:c.5046_5048del NP_004312.2:p.Arg1683del
NM_004321.7:c.5046_5048del NP_004312.2:p.Arg1683del
NM_004321.8:c.5046_5048del NP_004312.2:p.Arg1683del
ENST00000320389.11:c.5046_5048del ENSP00000322791.7:p.Arg1683del
ENST00000320389.12:c.5070_5072del ENSP00000322791.8:p.Arg1691del
ENST00000404283.9:c.5373_5375del ENSP00000384231.5:p.Arg1792del
ENST00000431776.6:c.2169_2171del ENSP00000414613.2:p.Arg724del
ENST00000460788.5:n.1906_1908del
ENST00000492812.5:n.1821_1823del
ENST00000492812.6:n.3932_3934del
ENST00000498729.6:c.5349_5351del ENSP00000438388.1:p.Arg1784del
ENST00000647731.1:c.5073_5075del ENSP00000498099.1:p.Arg1692del
ENST00000647885.1:c.5160_5162del ENSP00000497739.1:p.Arg1721del
ENST00000648047.1:c.4308_4310del ENSP00000497935.1:p.Arg1437del
ENST00000648129.1:c.5322_5324del ENSP00000497293.1:p.Arg1775del
ENST00000648364.1:c.5073_5075del ENSP00000498196.1:p.Arg1692del
ENST00000648680.1:c.5100_5102del ENSP00000497586.1:p.Arg1701del
ENST00000649096.1:c.5046_5048del ENSP00000497030.1:p.Arg1683del
ENST00000649190.1:n.4343_4345del
ENST00000649306.1:c.5148_5150del ENSP00000497678.1:p.Arg1717del
ENST00000650053.1:c.5046_5048del ENSP00000497824.1:p.Arg1683del
ENST00000650130.1:c.5322_5324del ENSP00000498082.1:p.Arg1775del
ENST00000650430.1:n.4421_4423del
XM_005247022.1:c.5376_5378del XP_005247079.1:p.Arg1793del
XM_005247023.1:c.5373_5375del XP_005247080.1:p.Arg1792del
XM_005247024.1:c.5349_5351del XP_005247081.1:p.Arg1784del
XM_005247026.1:c.5073_5075del XP_005247083.1:p.Arg1692del
XM_005247027.1:c.5070_5072del XP_005247084.1:p.Arg1691del
XM_005247028.1:c.5046_5048del XP_005247085.1:p.Arg1683del
XM_006712605.1:c.5322_5324del XP_006712668.1:p.Arg1775del
XM_011511364.1:c.5376_5378del XP_011509666.1:p.Arg1793del
XM_011511365.1:c.5100_5102del XP_011509667.1:p.Arg1701del
XM_011511366.1:c.4371_4373del XP_011509668.1:p.Arg1458del
XM_011511367.1:c.4371_4373del XP_011509669.1:p.Arg1458del