Canonical Allele Identifier: CA205541

Gene: KIF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240757451_240757456del , CM000664.2:g.240757451_240757456del	GRCh38
NC_000002.11:g.241696868_241696873del , CM000664.1:g.241696868_241696873del	GRCh37
NC_000002.10:g.241345541_241345546del	NCBI36
NG_029724.1:g.67779_67784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.2555+931_2555+936del	ENSP00000322791.8:n.2555+931_2555+936del
ENST00000404283.9:c.2748_2753del	ENSP00000384231.5:p.Glu916_Glu917del
ENST00000498729.9:c.2748_2753del MANE Select	ENSP00000438388.1:p.Glu916_Glu917del
ENST00000647731.1:c.2555+931_2555+936del	ENSP00000498099.1:n.2555+931_2555+936del
ENST00000647885.1:c.2555+931_2555+936del	ENSP00000497739.1:n.2555+931_2555+936del
ENST00000648047.1:c.1793+931_1793+936del	ENSP00000497935.1:n.1793+931_1793+936del
ENST00000648129.1:c.2721_2726del	ENSP00000497293.1:p.Glu907_Glu908del
ENST00000648364.1:c.2582+931_2582+936del	ENSP00000498196.1:n.2582+931_2582+936del
ENST00000648680.1:c.2582+931_2582+936del	ENSP00000497586.1:n.2582+931_2582+936del
ENST00000649064.1:n.2713+931_2713+936del
ENST00000649096.1:c.2555+931_2555+936del	ENSP00000497030.1:n.2555+931_2555+936del
ENST00000649190.1:n.1852+931_1852+936del
ENST00000649306.1:c.2657+931_2657+936del	ENSP00000497678.1:n.2657+931_2657+936del
ENST00000650053.1:c.2555+931_2555+936del	ENSP00000497824.1:n.2555+931_2555+936del
ENST00000650130.1:c.2721_2726del	ENSP00000498082.1:p.Glu907_Glu908del
ENST00000650430.1:n.1930+931_1930+936del
ENST00000320389.11:c.2555+931_2555+936del	ENSP00000322791.7:n.2555+931_2555+936del
ENST00000404283.7:c.2748_2753del	ENSP00000384231.3:p.Glu916_Glu917del
ENST00000498729.6:c.2748_2753del	ENSP00000438388.1:p.Glu916_Glu917del
NM_001244008.1:c.2748_2753del	NP_001230937.1:p.Glu916_Glu917del
NM_004321.6:c.2555+931_2555+936del	NP_004312.2:n.2555+931_2555+936del
XM_005247022.1:c.2748_2753del	XP_005247079.1:p.Glu916_Glu917del
XM_005247023.1:c.2748_2753del	XP_005247080.1:p.Glu916_Glu917del
XM_005247024.1:c.2721_2726del	XP_005247081.1:p.Glu907_Glu908del
XM_005247026.1:c.2582+931_2582+936del	XP_005247083.1:n.2582+931_2582+936del
XM_005247027.1:c.2555+931_2555+936del	XP_005247084.1:n.2555+931_2555+936del
XM_005247028.1:c.2555+931_2555+936del	XP_005247085.1:n.2555+931_2555+936del
XM_006712605.1:c.2721_2726del	XP_006712668.1:p.Glu907_Glu908del
XM_011511364.1:c.2748_2753del	XP_011509666.1:p.Glu916_Glu917del
XM_011511365.1:c.2582+931_2582+936del	XP_011509667.1:n.2582+931_2582+936del
XM_011511366.1:c.1743_1748del	XP_011509668.1:p.Glu581_Glu582del
XM_011511367.1:c.1743_1748del	XP_011509669.1:p.Glu581_Glu582del
NM_001320705.1:c.2582+931_2582+936del	NP_001307634.1:n.2582+931_2582+936del
NM_001330289.1:c.2582+931_2582+936del	NP_001317218.1:n.2582+931_2582+936del
NM_001330290.1:c.2657+931_2657+936del	NP_001317219.1:n.2657+931_2657+936del
NM_004321.7:c.2555+931_2555+936del	NP_004312.2:n.2555+931_2555+936del
NM_001320705.2:c.2582+931_2582+936del	NP_001307634.1:n.2582+931_2582+936del
NM_001330289.2:c.2582+931_2582+936del	NP_001317218.1:n.2582+931_2582+936del
NM_001330290.2:c.2657+931_2657+936del	NP_001317219.1:n.2657+931_2657+936del
NM_001244008.2:c.2748_2753del MANE Select	NP_001230937.1:p.Glu916_Glu917del
NM_001379631.1:c.2823_2828del	NP_001366560.1:p.Glu941_Glu942del
NM_001379632.1:c.2697_2702del	NP_001366561.1:p.Glu899_Glu900del
NM_001379633.1:c.2721_2726del	NP_001366562.1:p.Glu907_Glu908del
NM_001379634.1:c.2657+931_2657+936del	NP_001366563.1:n.2657+931_2657+936del
NM_001379635.1:c.2657+931_2657+936del	NP_001366564.1:n.2657+931_2657+936del
NM_001379636.1:c.2555+931_2555+936del	NP_001366565.1:n.2555+931_2555+936del
NM_001379637.1:c.2630+931_2630+936del	NP_001366566.1:n.2630+931_2630+936del
NM_001379638.1:c.2582+931_2582+936del	NP_001366567.1:n.2582+931_2582+936del
NM_001379639.1:c.2555+931_2555+936del	NP_001366568.1:n.2555+931_2555+936del
NM_001379640.1:c.2555+931_2555+936del	NP_001366569.1:n.2555+931_2555+936del
NM_001379641.1:c.2555+931_2555+936del	NP_001366570.1:n.2555+931_2555+936del
NM_001379642.1:c.2721_2726del	NP_001366571.1:p.Glu907_Glu908del
NM_001379645.1:c.2721_2726del	NP_001366574.1:p.Glu907_Glu908del
NM_001379646.1:c.2657+931_2657+936del	NP_001366575.1:n.2657+931_2657+936del
NM_001379648.1:c.2630+931_2630+936del	NP_001366577.1:n.2630+931_2630+936del
NM_001379649.1:c.2555+931_2555+936del	NP_001366578.1:n.2555+931_2555+936del
NM_001379650.1:c.2555+931_2555+936del	NP_001366579.1:n.2555+931_2555+936del
NM_001379651.1:c.2555+931_2555+936del	NP_001366580.1:n.2555+931_2555+936del
NM_001379653.1:c.2555+931_2555+936del	NP_001366582.1:n.2555+931_2555+936del
NM_004321.8:c.2555+931_2555+936del	NP_004312.2:n.2555+931_2555+936del