Canonical Allele Identifier: CA2804591309

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211962_68211963insAGT , CM000677.2:g.68211962_68211963insAGT	GRCh38
NC_000015.9:g.68504300_68504301insAGT , CM000677.1:g.68504300_68504301insAGT	GRCh37
NC_000015.8:g.66291354_66291355insAGT	NCBI36
NG_008764.2:g.50249_50250insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-100_298-99insACT MANE Select	ENSP00000249806.5:n.298-100_298-99insACT
ENST00000562767.2:c.84-14335_84-14334insACT	ENSP00000456336.1:n.84-14335_84-14334insACT
ENST00000563917.2:n.140-100_140-99insACT
ENST00000565471.6:c.84-2204_84-2203insACT	ENSP00000457384.1:n.84-2204_84-2203insACT
ENST00000635747.1:c.*201-100_*201-99insACT	ENSP00000490627.1:n.*201-100_*201-99insACT
ENST00000636212.1:c.298-222_298-221insACT	ENSP00000489851.1:n.298-222_298-221insACT
ENST00000636314.1:c.183-645_183-644insACT	ENSP00000490295.1:n.183-645_183-644insACT
ENST00000636674.1:n.1181_1182insACT
ENST00000636964.1:n.1370_1371insACT
ENST00000637054.1:c.198+6573_198+6574insACT	ENSP00000490807.1:n.198+6573_198+6574insACT
ENST00000637223.1:c.*201-645_*201-644insACT	ENSP00000490010.1:n.*201-645_*201-644insACT
ENST00000637329.1:c.209-42_209-41insACT
ENST00000637450.1:c.183-100_183-99insACT	ENSP00000490204.1:n.183-100_183-99insACT
ENST00000637494.1:c.199-645_199-644insACT	ENSP00000490057.1:n.199-645_199-644insACT
ENST00000637667.1:c.199-100_199-99insACT	ENSP00000489843.1:n.199-100_199-99insACT
ENST00000637823.1:c.224-320_224-319insACT
ENST00000637888.1:c.198+6573_198+6574insACT	ENSP00000490546.1:n.198+6573_198+6574insACT
ENST00000638076.1:c.298-100_298-99insACT	ENSP00000490373.1:n.298-100_298-99insACT
ENST00000638144.1:n.130-645_130-644insACT
ENST00000646164.1:c.38+6573_38+6574insACT
ENST00000249806.9:c.298-100_298-99insACT	ENSP00000249806.5:n.298-100_298-99insACT
ENST00000538696.5:c.394-100_394-99insACT	ENSP00000445770.1:n.394-100_394-99insACT
ENST00000562767.1:c.84-14335_84-14334insACT	ENSP00000456336.1:n.84-14335_84-14334insACT
ENST00000563917.1:n.79-100_79-99insACT
ENST00000564752.1:c.298-100_298-99insACT	ENSP00000457822.1:n.298-100_298-99insACT
ENST00000565471.5:c.84-2204_84-2203insACT	ENSP00000457384.1:n.84-2204_84-2203insACT
ENST00000566347.5:c.298-645_298-644insACT	ENSP00000457783.1:n.298-645_298-644insACT
ENST00000567060.5:c.298-2243_298-2242insACT	ENSP00000454818.1:n.298-2243_298-2242insACT
NM_017882.2:c.298-100_298-99insACT	NP_060352.1:n.298-100_298-99insACT
XR_931861.1:n.401-100_401-99insACT
NM_017882.3:c.298-100_298-99insACT MANE Select	NP_060352.1:n.298-100_298-99insACT