Canonical Allele Identifier: CA2804591304

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211957_68211958insACG , CM000677.2:g.68211957_68211958insACG	GRCh38
NC_000015.9:g.68504295_68504296insACG , CM000677.1:g.68504295_68504296insACG	GRCh37
NC_000015.8:g.66291349_66291350insACG	NCBI36
NG_008764.2:g.50254_50255insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-95_298-94insCGT MANE Select	ENSP00000249806.5:n.298-95_298-94insCGT
ENST00000562767.2:c.84-14330_84-14329insCGT	ENSP00000456336.1:n.84-14330_84-14329insCGT
ENST00000563917.2:n.140-95_140-94insCGT
ENST00000565471.6:c.84-2199_84-2198insCGT	ENSP00000457384.1:n.84-2199_84-2198insCGT
ENST00000635747.1:c.*201-95_*201-94insCGT	ENSP00000490627.1:n.*201-95_*201-94insCGT
ENST00000636212.1:c.298-217_298-216insCGT	ENSP00000489851.1:n.298-217_298-216insCGT
ENST00000636314.1:c.183-640_183-639insCGT	ENSP00000490295.1:n.183-640_183-639insCGT
ENST00000636674.1:n.1186_1187insCGT
ENST00000636964.1:n.1375_1376insCGT
ENST00000637054.1:c.198+6578_198+6579insCGT	ENSP00000490807.1:n.198+6578_198+6579insCGT
ENST00000637223.1:c.*201-640_*201-639insCGT	ENSP00000490010.1:n.*201-640_*201-639insCGT
ENST00000637329.1:c.209-37_209-36insCGT
ENST00000637450.1:c.183-95_183-94insCGT	ENSP00000490204.1:n.183-95_183-94insCGT
ENST00000637494.1:c.199-640_199-639insCGT	ENSP00000490057.1:n.199-640_199-639insCGT
ENST00000637667.1:c.199-95_199-94insCGT	ENSP00000489843.1:n.199-95_199-94insCGT
ENST00000637823.1:c.224-315_224-314insCGT
ENST00000637888.1:c.198+6578_198+6579insCGT	ENSP00000490546.1:n.198+6578_198+6579insCGT
ENST00000638076.1:c.298-95_298-94insCGT	ENSP00000490373.1:n.298-95_298-94insCGT
ENST00000638144.1:n.130-640_130-639insCGT
ENST00000646164.1:c.38+6578_38+6579insCGT
ENST00000249806.9:c.298-95_298-94insCGT	ENSP00000249806.5:n.298-95_298-94insCGT
ENST00000538696.5:c.394-95_394-94insCGT	ENSP00000445770.1:n.394-95_394-94insCGT
ENST00000562767.1:c.84-14330_84-14329insCGT	ENSP00000456336.1:n.84-14330_84-14329insCGT
ENST00000563917.1:n.79-95_79-94insCGT
ENST00000564752.1:c.298-95_298-94insCGT	ENSP00000457822.1:n.298-95_298-94insCGT
ENST00000565471.5:c.84-2199_84-2198insCGT	ENSP00000457384.1:n.84-2199_84-2198insCGT
ENST00000566347.5:c.298-640_298-639insCGT	ENSP00000457783.1:n.298-640_298-639insCGT
ENST00000567060.5:c.298-2238_298-2237insCGT	ENSP00000454818.1:n.298-2238_298-2237insCGT
NM_017882.2:c.298-95_298-94insCGT	NP_060352.1:n.298-95_298-94insCGT
XR_931861.1:n.401-95_401-94insCGT
NM_017882.3:c.298-95_298-94insCGT MANE Select	NP_060352.1:n.298-95_298-94insCGT