Canonical Allele Identifier: CA136148983

Gene: KIAA0319

Linked Data

• dbSNP Id: rs201098146
• MyVariant Identifiers: chr6:g.24632624_24632625insAA (hg19) ; chr6:g.24632396_24632397insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24632397_24632398dup , CM000668.2:g.24632397_24632398dup	GRCh38
NC_000006.11:g.24632625_24632626dup , CM000668.1:g.24632625_24632626dup	GRCh37
NC_000006.10:g.24740604_24740605dup	NCBI36
NG_016206.1:g.18758_18759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.-106+13338_-106+13339dup MANE Select	ENSP00000367459.3:n.-106+13338_-106+13339dup
ENST00000378214.7:c.-106+13338_-106+13339dup	ENSP00000367459.3:n.-106+13338_-106+13339dup
ENST00000430948.6:c.-81+13229_-81+13230dup	ENSP00000401086.2:n.-81+13229_-81+13230dup
ENST00000535378.5:c.-224+13338_-224+13339dup	ENSP00000442403.1:n.-224+13338_-224+13339dup
ENST00000537886.5:c.-106+13338_-106+13339dup	ENSP00000439700.1:n.-106+13338_-106+13339dup
ENST00000543707.2:c.-106+13338_-106+13339dup	ENSP00000437656.1:n.-106+13338_-106+13339dup
NM_001168374.1:c.-224+13338_-224+13339dup	NP_001161846.1:n.-224+13338_-224+13339dup
NM_001168375.1:c.-106+13229_-106+13230dup	NP_001161847.1:n.-106+13229_-106+13230dup
NM_001168376.1:c.-81+13229_-81+13230dup	NP_001161848.1:n.-81+13229_-81+13230dup
NM_001168377.1:c.-106+13338_-106+13339dup	NP_001161849.1:n.-106+13338_-106+13339dup
NM_014809.3:c.-106+13338_-106+13339dup	NP_055624.2:n.-106+13338_-106+13339dup
XM_011515022.1:c.-106+13229_-106+13230dup	XP_011513324.1:n.-106+13229_-106+13230dup
XM_011515023.1:c.-106+13338_-106+13339dup	XP_011513325.1:n.-106+13338_-106+13339dup
XM_011515024.1:c.-106+13637_-106+13638dup	XP_011513326.1:n.-106+13637_-106+13638dup
XM_011515025.1:c.-106+13637_-106+13638dup	XP_011513327.1:n.-106+13637_-106+13638dup
NM_001350403.1:c.-106+13637_-106+13638dup	NP_001337332.1:n.-106+13637_-106+13638dup
NM_001350404.1:c.37+13338_37+13339dup	NP_001337333.1:n.37+13338_37+13339dup
NM_001350405.1:c.-106+13229_-106+13230dup	NP_001337334.1:n.-106+13229_-106+13230dup
NM_001350406.1:c.-81+13637_-81+13638dup	NP_001337335.1:n.-81+13637_-81+13638dup
NM_001350407.1:c.-106+13637_-106+13638dup	NP_001337336.1:n.-106+13637_-106+13638dup
NM_001350408.1:c.-106+13338_-106+13339dup	NP_001337337.1:n.-106+13338_-106+13339dup
NM_001350409.1:c.-366+13637_-366+13638dup	NP_001337338.1:n.-366+13637_-366+13638dup
NM_001350410.1:c.-366+13338_-366+13339dup	NP_001337339.1:n.-366+13338_-366+13339dup
XM_017011541.1:c.-224+13229_-224+13230dup	XP_016867030.1:n.-224+13229_-224+13230dup
XM_017011542.2:c.-106+13229_-106+13230dup	XP_016867031.1:n.-106+13229_-106+13230dup
XM_017011544.1:c.-106+13338_-106+13339dup	XP_016867033.1:n.-106+13338_-106+13339dup
XM_017011546.2:c.-106+13229_-106+13230dup	XP_016867035.1:n.-106+13229_-106+13230dup
XM_017011547.1:c.-106+13229_-106+13230dup	XP_016867036.1:n.-106+13229_-106+13230dup
XM_017011550.1:c.-106+13229_-106+13230dup	XP_016867039.1:n.-106+13229_-106+13230dup
XM_017011551.1:c.-106+13229_-106+13230dup	XP_016867040.1:n.-106+13229_-106+13230dup
XR_001743779.1:n.138+13229_138+13230dup
XR_001743780.1:n.138+13229_138+13230dup
NM_014809.4:c.-106+13338_-106+13339dup MANE Select	NP_055624.2:n.-106+13338_-106+13339dup
NM_001168375.2:c.-106+13229_-106+13230dup	NP_001161847.1:n.-106+13229_-106+13230dup
NM_001350403.2:c.-106+13637_-106+13638dup	NP_001337332.1:n.-106+13637_-106+13638dup
NM_001350404.2:c.37+13338_37+13339dup	NP_001337333.1:n.37+13338_37+13339dup
NM_001350405.2:c.-106+13229_-106+13230dup	NP_001337334.1:n.-106+13229_-106+13230dup
NM_001350406.2:c.-81+13637_-81+13638dup	NP_001337335.1:n.-81+13637_-81+13638dup
NM_001350407.2:c.-106+13637_-106+13638dup	NP_001337336.1:n.-106+13637_-106+13638dup
NM_001350408.2:c.-106+13338_-106+13339dup	NP_001337337.1:n.-106+13338_-106+13339dup
NM_001350409.2:c.-366+13637_-366+13638dup	NP_001337338.1:n.-366+13637_-366+13638dup
NM_001350410.2:c.-366+13338_-366+13339dup	NP_001337339.1:n.-366+13338_-366+13339dup
NM_001168374.2:c.-224+13338_-224+13339dup	NP_001161846.1:n.-224+13338_-224+13339dup
NM_001168376.2:c.-81+13229_-81+13230dup	NP_001161848.1:n.-81+13229_-81+13230dup
NM_001168377.2:c.-106+13338_-106+13339dup	NP_001161849.1:n.-106+13338_-106+13339dup