Canonical Allele Identifier: CA2842204258

Gene: KIAA0319

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24596249_24596250insAC , CM000668.2:g.24596249_24596250insAC	GRCh38
NC_000006.11:g.24596477_24596478insAC , CM000668.1:g.24596477_24596478insAC	GRCh37
NC_000006.10:g.24704456_24704457insAC	NCBI36
NG_016206.1:g.54906_54907insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.424_425insGT MANE Select	ENSP00000367459.3:p.Thr142SerfsTer4
ENST00000378214.7:c.424_425insGT	ENSP00000367459.3:p.Thr142SerfsTer4
ENST00000430948.6:c.289_290insGT	ENSP00000401086.2:p.Thr97SerfsTer4
ENST00000535378.5:c.397_398insGT	ENSP00000442403.1:p.Thr133SerfsTer4
ENST00000537886.5:c.424_425insGT	ENSP00000439700.1:p.Thr142SerfsTer4
ENST00000543707.2:c.424_425insGT	ENSP00000437656.1:p.Thr142SerfsTer4
NM_001168374.1:c.397_398insGT	NP_001161846.1:p.Thr133SerfsTer4
NM_001168375.1:c.424_425insGT	NP_001161847.1:p.Thr142SerfsTer4
NM_001168376.1:c.289_290insGT	NP_001161848.1:p.Thr97SerfsTer4
NM_001168377.1:c.424_425insGT	NP_001161849.1:p.Thr142SerfsTer4
NM_014809.3:c.424_425insGT	NP_055624.2:p.Thr142SerfsTer4
XM_006715288.2:c.-23-10_-23-9insGT	XP_006715351.1:n.-23-10_-23-9insGT
XM_011515022.1:c.442_443insGT	XP_011513324.1:p.Thr148SerfsTer4
XM_011515023.1:c.442_443insGT	XP_011513325.1:p.Thr148SerfsTer4
XM_011515024.1:c.442_443insGT	XP_011513326.1:p.Thr148SerfsTer4
XM_011515025.1:c.424_425insGT	XP_011513327.1:p.Thr142SerfsTer4
XM_011515026.1:c.289_290insGT	XP_011513328.1:p.Thr97SerfsTer4
NM_001350403.1:c.424_425insGT	NP_001337332.1:p.Thr142SerfsTer4
NM_001350404.1:c.406_407insGT	NP_001337333.1:p.Thr136SerfsTer4
NM_001350405.1:c.424_425insGT	NP_001337334.1:p.Thr142SerfsTer4
NM_001350406.1:c.289_290insGT	NP_001337335.1:p.Thr97SerfsTer4
NM_001350407.1:c.424_425insGT	NP_001337336.1:p.Thr142SerfsTer4
NM_001350408.1:c.424_425insGT	NP_001337337.1:p.Thr142SerfsTer4
NM_001350409.1:c.-23-10_-23-9insGT	NP_001337338.1:n.-23-10_-23-9insGT
NM_001350410.1:c.-23-10_-23-9insGT	NP_001337339.1:n.-23-10_-23-9insGT
XM_011515026.3:c.289_290insGT	XP_011513328.1:p.Thr97SerfsTer4
XM_017011541.1:c.397_398insGT	XP_016867030.1:p.Thr133SerfsTer4
XM_017011542.2:c.424_425insGT	XP_016867031.1:p.Thr142SerfsTer4
XM_017011544.1:c.424_425insGT	XP_016867033.1:p.Thr142SerfsTer4
XM_017011546.2:c.424_425insGT	XP_016867035.1:p.Thr142SerfsTer4
XM_017011547.1:c.424_425insGT	XP_016867036.1:p.Thr142SerfsTer4
XM_017011550.1:c.424_425insGT	XP_016867039.1:p.Thr142SerfsTer4
XM_017011551.1:c.424_425insGT	XP_016867040.1:p.Thr142SerfsTer4
XR_001743779.1:n.667_668insGT
XR_001743780.1:n.667_668insGT
NM_014809.4:c.424_425insGT MANE Select	NP_055624.2:p.Thr142SerfsTer4
NM_001168375.2:c.424_425insGT	NP_001161847.1:p.Thr142SerfsTer4
NM_001350403.2:c.424_425insGT	NP_001337332.1:p.Thr142SerfsTer4
NM_001350404.2:c.406_407insGT	NP_001337333.1:p.Thr136SerfsTer4
NM_001350405.2:c.424_425insGT	NP_001337334.1:p.Thr142SerfsTer4
NM_001350406.2:c.289_290insGT	NP_001337335.1:p.Thr97SerfsTer4
NM_001350407.2:c.424_425insGT	NP_001337336.1:p.Thr142SerfsTer4
NM_001350408.2:c.424_425insGT	NP_001337337.1:p.Thr142SerfsTer4
NM_001350409.2:c.-23-10_-23-9insGT	NP_001337338.1:n.-23-10_-23-9insGT
NM_001350410.2:c.-23-10_-23-9insGT	NP_001337339.1:n.-23-10_-23-9insGT
NM_001168374.2:c.397_398insGT	NP_001161846.1:p.Thr133SerfsTer4
NM_001168376.2:c.289_290insGT	NP_001161848.1:p.Thr97SerfsTer4
NM_001168377.2:c.424_425insGT	NP_001161849.1:p.Thr142SerfsTer4