Canonical Allele Identifier: CA2184874882

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214172_68214173delinsAC , CM000677.2:g.68214172_68214173delinsAC	GRCh38
NC_000015.9:g.68506510_68506511delinsAC , CM000677.1:g.68506510_68506511delinsAC	GRCh37
NC_000015.8:g.66293564_66293565delinsAC	NCBI36
NG_008764.2:g.48039_48040delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.297+117_297+118delinsGT MANE Select	ENSP00000249806.5:n.297+117_297+118delinsGT
ENST00000562767.2:c.83+15329_83+15330delinsGT	ENSP00000456336.1:n.83+15329_83+15330delinsGT
ENST00000563917.2:n.139+117_139+118delinsGT
ENST00000565471.6:c.84-4414_84-4413delinsGT	ENSP00000457384.1:n.84-4414_84-4413delinsGT
ENST00000635747.1:c.*200+117_*200+118delinsGT	ENSP00000490627.1:n.*200+117_*200+118delinsGT
ENST00000635754.1:n.1436_1437delinsGT
ENST00000636020.1:n.546_547delinsGT
ENST00000636212.1:c.297+117_297+118delinsGT	ENSP00000489851.1:n.297+117_297+118delinsGT
ENST00000636314.1:c.182+117_182+118delinsGT	ENSP00000490295.1:n.182+117_182+118delinsGT
ENST00000637054.1:c.198+4363_198+4364delinsGT	ENSP00000490807.1:n.198+4363_198+4364delinsGT
ENST00000637223.1:c.*200+117_*200+118delinsGT	ENSP00000490010.1:n.*200+117_*200+118delinsGT
ENST00000637329.1:c.208+117_208+118delinsGT
ENST00000637450.1:c.182+117_182+118delinsGT	ENSP00000490204.1:n.182+117_182+118delinsGT
ENST00000637494.1:c.199-2855_199-2854delinsGT	ENSP00000490057.1:n.199-2855_199-2854delinsGT
ENST00000637667.1:c.199-2310_199-2309delinsGT	ENSP00000489843.1:n.199-2310_199-2309delinsGT
ENST00000637823.1:c.223+117_223+118delinsGT
ENST00000637888.1:c.198+4363_198+4364delinsGT	ENSP00000490546.1:n.198+4363_198+4364delinsGT
ENST00000638076.1:c.297+117_297+118delinsGT	ENSP00000490373.1:n.297+117_297+118delinsGT
ENST00000638144.1:n.129+117_129+118delinsGT
ENST00000646164.1:c.38+4363_38+4364delinsGT
ENST00000249806.9:c.297+117_297+118delinsGT	ENSP00000249806.5:n.297+117_297+118delinsGT
ENST00000538696.5:c.393+117_393+118delinsGT	ENSP00000445770.1:n.393+117_393+118delinsGT
ENST00000562767.1:c.83+15329_83+15330delinsGT	ENSP00000456336.1:n.83+15329_83+15330delinsGT
ENST00000563917.1:n.78+117_78+118delinsGT
ENST00000564752.1:c.297+117_297+118delinsGT	ENSP00000457822.1:n.297+117_297+118delinsGT
ENST00000564846.1:n.846_847delinsGT
ENST00000565471.5:c.84-4414_84-4413delinsGT	ENSP00000457384.1:n.84-4414_84-4413delinsGT
ENST00000566347.5:c.297+117_297+118delinsGT	ENSP00000457783.1:n.297+117_297+118delinsGT
ENST00000567060.5:c.297+117_297+118delinsGT	ENSP00000454818.1:n.297+117_297+118delinsGT
NM_017882.2:c.297+117_297+118delinsGT	NP_060352.1:n.297+117_297+118delinsGT
XR_931861.1:n.400+117_400+118delinsGT
NM_017882.3:c.297+117_297+118delinsGT MANE Select	NP_060352.1:n.297+117_297+118delinsGT