Canonical Allele Identifier: CA2804591370

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212005_68212006insAGT , CM000677.2:g.68212005_68212006insAGT	GRCh38
NC_000015.9:g.68504343_68504344insAGT , CM000677.1:g.68504343_68504344insAGT	GRCh37
NC_000015.8:g.66291397_66291398insAGT	NCBI36
NG_008764.2:g.50206_50207insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-143_298-142insACT MANE Select	ENSP00000249806.5:n.298-143_298-142insACT
ENST00000562767.2:c.84-14378_84-14377insACT	ENSP00000456336.1:n.84-14378_84-14377insACT
ENST00000563917.2:n.140-143_140-142insACT
ENST00000565471.6:c.84-2247_84-2246insACT	ENSP00000457384.1:n.84-2247_84-2246insACT
ENST00000635747.1:c.*201-143_*201-142insACT	ENSP00000490627.1:n.*201-143_*201-142insACT
ENST00000636212.1:c.298-265_298-264insACT	ENSP00000489851.1:n.298-265_298-264insACT
ENST00000636314.1:c.183-688_183-687insACT	ENSP00000490295.1:n.183-688_183-687insACT
ENST00000636674.1:n.1138_1139insACT
ENST00000636964.1:n.1327_1328insACT
ENST00000637054.1:c.198+6530_198+6531insACT	ENSP00000490807.1:n.198+6530_198+6531insACT
ENST00000637223.1:c.*201-688_*201-687insACT	ENSP00000490010.1:n.*201-688_*201-687insACT
ENST00000637329.1:c.209-85_209-84insACT
ENST00000637450.1:c.183-143_183-142insACT	ENSP00000490204.1:n.183-143_183-142insACT
ENST00000637494.1:c.199-688_199-687insACT	ENSP00000490057.1:n.199-688_199-687insACT
ENST00000637667.1:c.199-143_199-142insACT	ENSP00000489843.1:n.199-143_199-142insACT
ENST00000637823.1:c.224-363_224-362insACT
ENST00000637888.1:c.198+6530_198+6531insACT	ENSP00000490546.1:n.198+6530_198+6531insACT
ENST00000638076.1:c.298-143_298-142insACT	ENSP00000490373.1:n.298-143_298-142insACT
ENST00000638144.1:n.130-688_130-687insACT
ENST00000646164.1:c.38+6530_38+6531insACT
ENST00000249806.9:c.298-143_298-142insACT	ENSP00000249806.5:n.298-143_298-142insACT
ENST00000538696.5:c.394-143_394-142insACT	ENSP00000445770.1:n.394-143_394-142insACT
ENST00000562767.1:c.84-14378_84-14377insACT	ENSP00000456336.1:n.84-14378_84-14377insACT
ENST00000563917.1:n.79-143_79-142insACT
ENST00000564752.1:c.298-143_298-142insACT	ENSP00000457822.1:n.298-143_298-142insACT
ENST00000565471.5:c.84-2247_84-2246insACT	ENSP00000457384.1:n.84-2247_84-2246insACT
ENST00000566347.5:c.298-688_298-687insACT	ENSP00000457783.1:n.298-688_298-687insACT
ENST00000567060.5:c.297+2284_298-2285insACT	ENSP00000454818.1:n.297+2284_298-2285insACT
NM_017882.2:c.298-143_298-142insACT	NP_060352.1:n.298-143_298-142insACT
XR_931861.1:n.401-143_401-142insACT
NM_017882.3:c.298-143_298-142insACT MANE Select	NP_060352.1:n.298-143_298-142insACT