Canonical Allele Identifier: CA2499223065

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1184729
• ClinVar RCV Id: RCV001543158
• dbSNP Id: rs2141141533

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214369_68214371dup , CM000677.2:g.68214369_68214371dup	GRCh38
NC_000015.9:g.68506707_68506709dup , CM000677.1:g.68506707_68506709dup	GRCh37
NC_000015.8:g.66293761_66293763dup	NCBI36
NG_008764.2:g.47843_47845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.218_220dup MANE Select	ENSP00000249806.5:p.Trp73_Phe74insTrp
ENST00000562767.2:c.83+15133_83+15135dup	ENSP00000456336.1:n.83+15133_83+15135dup
ENST00000563917.2:n.60_62dup
ENST00000565471.6:c.84-4610_84-4608dup	ENSP00000457384.1:n.84-4610_84-4608dup
ENST00000635747.1:c.*121_*123dup	ENSP00000490627.1:n.*121_*123dup
ENST00000635754.1:n.1240_1242dup
ENST00000636020.1:n.350_352dup
ENST00000636212.1:c.218_220dup	ENSP00000489851.1:p.Trp73_Phe74insTrp
ENST00000636314.1:c.103_105dup	ENSP00000490295.1:p.Gly35_Phe36insGly
ENST00000637054.1:c.198+4167_198+4169dup	ENSP00000490807.1:n.198+4167_198+4169dup
ENST00000637223.1:c.*121_*123dup	ENSP00000490010.1:n.*121_*123dup
ENST00000637329.1:c.129_131dup
ENST00000637450.1:c.103_105dup	ENSP00000490204.1:p.Gly35_Phe36insGly
ENST00000637494.1:c.199-3051_199-3049dup	ENSP00000490057.1:n.199-3051_199-3049dup
ENST00000637667.1:c.199-2506_199-2504dup	ENSP00000489843.1:n.199-2506_199-2504dup
ENST00000637823.1:c.144_146dup
ENST00000637888.1:c.198+4167_198+4169dup	ENSP00000490546.1:n.198+4167_198+4169dup
ENST00000638076.1:c.218_220dup	ENSP00000490373.1:p.Trp73_Phe74insTrp
ENST00000638144.1:n.50_52dup
ENST00000646164.1:c.38+4167_38+4169dup
ENST00000249806.9:c.218_220dup	ENSP00000249806.5:p.Trp73_Phe74insTrp
ENST00000538696.5:c.314_316dup	ENSP00000445770.1:p.Trp105_Phe106insTrp
ENST00000562767.1:c.83+15133_83+15135dup	ENSP00000456336.1:n.83+15133_83+15135dup
ENST00000564752.1:c.218_220dup	ENSP00000457822.1:p.Trp73_Phe74insTrp
ENST00000564846.1:n.650_652dup
ENST00000565471.5:c.84-4610_84-4608dup	ENSP00000457384.1:n.84-4610_84-4608dup
ENST00000566347.5:c.218_220dup	ENSP00000457783.1:p.Trp73_Phe74insTrp
ENST00000567060.5:c.218_220dup	ENSP00000454818.1:p.Trp73_Phe74insTrp
NM_017882.2:c.218_220dup	NP_060352.1:p.Trp73_Phe74insTrp
XR_931861.1:n.321_323dup
NM_017882.3:c.218_220dup MANE Select	NP_060352.1:p.Trp73_Phe74insTrp