Canonical Allele Identifier: CA2804591348

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211993_68211994insACA , CM000677.2:g.68211993_68211994insACA	GRCh38
NC_000015.9:g.68504331_68504332insACA , CM000677.1:g.68504331_68504332insACA	GRCh37
NC_000015.8:g.66291385_66291386insACA	NCBI36
NG_008764.2:g.50218_50219insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-131_298-130insTGT MANE Select	ENSP00000249806.5:n.298-131_298-130insTGT
ENST00000562767.2:c.84-14366_84-14365insTGT	ENSP00000456336.1:n.84-14366_84-14365insTGT
ENST00000563917.2:n.140-131_140-130insTGT
ENST00000565471.6:c.84-2235_84-2234insTGT	ENSP00000457384.1:n.84-2235_84-2234insTGT
ENST00000635747.1:c.*201-131_*201-130insTGT	ENSP00000490627.1:n.*201-131_*201-130insTGT
ENST00000636212.1:c.298-253_298-252insTGT	ENSP00000489851.1:n.298-253_298-252insTGT
ENST00000636314.1:c.183-676_183-675insTGT	ENSP00000490295.1:n.183-676_183-675insTGT
ENST00000636674.1:n.1150_1151insTGT
ENST00000636964.1:n.1339_1340insTGT
ENST00000637054.1:c.198+6542_198+6543insTGT	ENSP00000490807.1:n.198+6542_198+6543insTGT
ENST00000637223.1:c.*201-676_*201-675insTGT	ENSP00000490010.1:n.*201-676_*201-675insTGT
ENST00000637329.1:c.209-73_209-72insTGT
ENST00000637450.1:c.183-131_183-130insTGT	ENSP00000490204.1:n.183-131_183-130insTGT
ENST00000637494.1:c.199-676_199-675insTGT	ENSP00000490057.1:n.199-676_199-675insTGT
ENST00000637667.1:c.199-131_199-130insTGT	ENSP00000489843.1:n.199-131_199-130insTGT
ENST00000637823.1:c.224-351_224-350insTGT
ENST00000637888.1:c.198+6542_198+6543insTGT	ENSP00000490546.1:n.198+6542_198+6543insTGT
ENST00000638076.1:c.298-131_298-130insTGT	ENSP00000490373.1:n.298-131_298-130insTGT
ENST00000638144.1:n.130-676_130-675insTGT
ENST00000646164.1:c.38+6542_38+6543insTGT
ENST00000249806.9:c.298-131_298-130insTGT	ENSP00000249806.5:n.298-131_298-130insTGT
ENST00000538696.5:c.394-131_394-130insTGT	ENSP00000445770.1:n.394-131_394-130insTGT
ENST00000562767.1:c.84-14366_84-14365insTGT	ENSP00000456336.1:n.84-14366_84-14365insTGT
ENST00000563917.1:n.79-131_79-130insTGT
ENST00000564752.1:c.298-131_298-130insTGT	ENSP00000457822.1:n.298-131_298-130insTGT
ENST00000565471.5:c.84-2235_84-2234insTGT	ENSP00000457384.1:n.84-2235_84-2234insTGT
ENST00000566347.5:c.298-676_298-675insTGT	ENSP00000457783.1:n.298-676_298-675insTGT
ENST00000567060.5:c.298-2274_298-2273insTGT	ENSP00000454818.1:n.298-2274_298-2273insTGT
NM_017882.2:c.298-131_298-130insTGT	NP_060352.1:n.298-131_298-130insTGT
XR_931861.1:n.401-131_401-130insTGT
NM_017882.3:c.298-131_298-130insTGT MANE Select	NP_060352.1:n.298-131_298-130insTGT