Canonical Allele Identifier: CA2842204254

Gene: KIAA0319

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24596089dup , CM000668.2:g.24596089dup	GRCh38
NC_000006.11:g.24596317dup , CM000668.1:g.24596317dup	GRCh37
NC_000006.10:g.24704296dup	NCBI36
NG_016206.1:g.55067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.585dup MANE Select	ENSP00000367459.3:p.Asn196GlnfsTer19
ENST00000378214.7:c.585dup	ENSP00000367459.3:p.Asn196GlnfsTer19
ENST00000430948.6:c.450dup	ENSP00000401086.2:p.Asn151GlnfsTer19
ENST00000535378.5:c.558dup	ENSP00000442403.1:p.Asn187GlnfsTer19
ENST00000537886.5:c.585dup	ENSP00000439700.1:p.Asn196GlnfsTer19
ENST00000543707.2:c.585dup	ENSP00000437656.1:p.Asn196GlnfsTer19
NM_001168374.1:c.558dup	NP_001161846.1:p.Asn187GlnfsTer19
NM_001168375.1:c.585dup	NP_001161847.1:p.Asn196GlnfsTer19
NM_001168376.1:c.450dup	NP_001161848.1:p.Asn151GlnfsTer19
NM_001168377.1:c.585dup	NP_001161849.1:p.Asn196GlnfsTer19
NM_014809.3:c.585dup	NP_055624.2:p.Asn196GlnfsTer19
XM_006715288.2:c.129dup	XP_006715351.1:p.Asn44GlnfsTer19
XM_011515022.1:c.603dup	XP_011513324.1:p.Asn202GlnfsTer19
XM_011515023.1:c.603dup	XP_011513325.1:p.Asn202GlnfsTer19
XM_011515024.1:c.603dup	XP_011513326.1:p.Asn202GlnfsTer19
XM_011515025.1:c.585dup	XP_011513327.1:p.Asn196GlnfsTer19
XM_011515026.1:c.450dup	XP_011513328.1:p.Asn151GlnfsTer19
NM_001350403.1:c.585dup	NP_001337332.1:p.Asn196GlnfsTer19
NM_001350404.1:c.567dup	NP_001337333.1:p.Asn190GlnfsTer19
NM_001350405.1:c.585dup	NP_001337334.1:p.Asn196GlnfsTer19
NM_001350406.1:c.450dup	NP_001337335.1:p.Asn151GlnfsTer19
NM_001350407.1:c.585dup	NP_001337336.1:p.Asn196GlnfsTer19
NM_001350408.1:c.585dup	NP_001337337.1:p.Asn196GlnfsTer19
NM_001350409.1:c.129dup	NP_001337338.1:p.Asn44GlnfsTer19
NM_001350410.1:c.129dup	NP_001337339.1:p.Asn44GlnfsTer19
XM_011515026.3:c.450dup	XP_011513328.1:p.Asn151GlnfsTer19
XM_017011541.1:c.558dup	XP_016867030.1:p.Asn187GlnfsTer19
XM_017011542.2:c.585dup	XP_016867031.1:p.Asn196GlnfsTer19
XM_017011544.1:c.585dup	XP_016867033.1:p.Asn196GlnfsTer19
XM_017011546.2:c.585dup	XP_016867035.1:p.Asn196GlnfsTer19
XM_017011547.1:c.585dup	XP_016867036.1:p.Asn196GlnfsTer19
XM_017011550.1:c.585dup	XP_016867039.1:p.Asn196GlnfsTer19
XM_017011551.1:c.585dup	XP_016867040.1:p.Asn196GlnfsTer19
XR_001743779.1:n.828dup
XR_001743780.1:n.828dup
NM_014809.4:c.585dup MANE Select	NP_055624.2:p.Asn196GlnfsTer19
NM_001168375.2:c.585dup	NP_001161847.1:p.Asn196GlnfsTer19
NM_001350403.2:c.585dup	NP_001337332.1:p.Asn196GlnfsTer19
NM_001350404.2:c.567dup	NP_001337333.1:p.Asn190GlnfsTer19
NM_001350405.2:c.585dup	NP_001337334.1:p.Asn196GlnfsTer19
NM_001350406.2:c.450dup	NP_001337335.1:p.Asn151GlnfsTer19
NM_001350407.2:c.585dup	NP_001337336.1:p.Asn196GlnfsTer19
NM_001350408.2:c.585dup	NP_001337337.1:p.Asn196GlnfsTer19
NM_001350409.2:c.129dup	NP_001337338.1:p.Asn44GlnfsTer19
NM_001350410.2:c.129dup	NP_001337339.1:p.Asn44GlnfsTer19
NM_001168374.2:c.558dup	NP_001161846.1:p.Asn187GlnfsTer19
NM_001168376.2:c.450dup	NP_001161848.1:p.Asn151GlnfsTer19
NM_001168377.2:c.585dup	NP_001161849.1:p.Asn196GlnfsTer19