Canonical Allele Identifier: CA2804591289

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211921_68211922insA , CM000677.2:g.68211921_68211922insA	GRCh38
NC_000015.9:g.68504259_68504260insA , CM000677.1:g.68504259_68504260insA	GRCh37
NC_000015.8:g.66291313_66291314insA	NCBI36
NG_008764.2:g.50290_50291insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-59_298-58insT MANE Select	ENSP00000249806.5:n.298-59_298-58insT
ENST00000562767.2:c.84-14294_84-14293insT	ENSP00000456336.1:n.84-14294_84-14293insT
ENST00000563917.2:n.140-59_140-58insT
ENST00000565471.6:c.84-2163_84-2162insT	ENSP00000457384.1:n.84-2163_84-2162insT
ENST00000635747.1:c.*201-59_*201-58insT	ENSP00000490627.1:n.*201-59_*201-58insT
ENST00000636212.1:c.298-181_298-180insT	ENSP00000489851.1:n.298-181_298-180insT
ENST00000636314.1:c.183-604_183-603insT	ENSP00000490295.1:n.183-604_183-603insT
ENST00000636674.1:n.1222_1223insT
ENST00000636964.1:n.1411_1412insT
ENST00000637054.1:c.198+6614_198+6615insT	ENSP00000490807.1:n.198+6614_198+6615insT
ENST00000637223.1:c.*201-604_*201-603insT	ENSP00000490010.1:n.*201-604_*201-603insT
ENST00000637329.1:c.209-1_209insT
ENST00000637450.1:c.183-59_183-58insT	ENSP00000490204.1:n.183-59_183-58insT
ENST00000637494.1:c.199-604_199-603insT	ENSP00000490057.1:n.199-604_199-603insT
ENST00000637667.1:c.199-59_199-58insT	ENSP00000489843.1:n.199-59_199-58insT
ENST00000637823.1:c.224-279_224-278insT
ENST00000637888.1:c.198+6614_198+6615insT	ENSP00000490546.1:n.198+6614_198+6615insT
ENST00000638076.1:c.298-59_298-58insT	ENSP00000490373.1:n.298-59_298-58insT
ENST00000638144.1:n.130-604_130-603insT
ENST00000646164.1:c.38+6614_38+6615insT
ENST00000249806.9:c.298-59_298-58insT	ENSP00000249806.5:n.298-59_298-58insT
ENST00000538696.5:c.394-59_394-58insT	ENSP00000445770.1:n.394-59_394-58insT
ENST00000562767.1:c.84-14294_84-14293insT	ENSP00000456336.1:n.84-14294_84-14293insT
ENST00000563917.1:n.79-59_79-58insT
ENST00000564752.1:c.298-59_298-58insT	ENSP00000457822.1:n.298-59_298-58insT
ENST00000565471.5:c.84-2163_84-2162insT	ENSP00000457384.1:n.84-2163_84-2162insT
ENST00000566347.5:c.298-604_298-603insT	ENSP00000457783.1:n.298-604_298-603insT
ENST00000567060.5:c.298-2202_298-2201insT	ENSP00000454818.1:n.298-2202_298-2201insT
NM_017882.2:c.298-59_298-58insT	NP_060352.1:n.298-59_298-58insT
XR_931861.1:n.401-59_401-58insT
NM_017882.3:c.298-59_298-58insT MANE Select	NP_060352.1:n.298-59_298-58insT