Canonical Allele Identifier: CA2804591347

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211991_68211992insACA , CM000677.2:g.68211991_68211992insACA	GRCh38
NC_000015.9:g.68504329_68504330insACA , CM000677.1:g.68504329_68504330insACA	GRCh37
NC_000015.8:g.66291383_66291384insACA	NCBI36
NG_008764.2:g.50220_50221insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-129_298-128insTGT MANE Select	ENSP00000249806.5:n.298-129_298-128insTGT
ENST00000562767.2:c.84-14364_84-14363insTGT	ENSP00000456336.1:n.84-14364_84-14363insTGT
ENST00000563917.2:n.140-129_140-128insTGT
ENST00000565471.6:c.84-2233_84-2232insTGT	ENSP00000457384.1:n.84-2233_84-2232insTGT
ENST00000635747.1:c.*201-129_*201-128insTGT	ENSP00000490627.1:n.*201-129_*201-128insTGT
ENST00000636212.1:c.298-251_298-250insTGT	ENSP00000489851.1:n.298-251_298-250insTGT
ENST00000636314.1:c.183-674_183-673insTGT	ENSP00000490295.1:n.183-674_183-673insTGT
ENST00000636674.1:n.1152_1153insTGT
ENST00000636964.1:n.1341_1342insTGT
ENST00000637054.1:c.198+6544_198+6545insTGT	ENSP00000490807.1:n.198+6544_198+6545insTGT
ENST00000637223.1:c.*201-674_*201-673insTGT	ENSP00000490010.1:n.*201-674_*201-673insTGT
ENST00000637329.1:c.209-71_209-70insTGT
ENST00000637450.1:c.183-129_183-128insTGT	ENSP00000490204.1:n.183-129_183-128insTGT
ENST00000637494.1:c.199-674_199-673insTGT	ENSP00000490057.1:n.199-674_199-673insTGT
ENST00000637667.1:c.199-129_199-128insTGT	ENSP00000489843.1:n.199-129_199-128insTGT
ENST00000637823.1:c.224-349_224-348insTGT
ENST00000637888.1:c.198+6544_198+6545insTGT	ENSP00000490546.1:n.198+6544_198+6545insTGT
ENST00000638076.1:c.298-129_298-128insTGT	ENSP00000490373.1:n.298-129_298-128insTGT
ENST00000638144.1:n.130-674_130-673insTGT
ENST00000646164.1:c.38+6544_38+6545insTGT
ENST00000249806.9:c.298-129_298-128insTGT	ENSP00000249806.5:n.298-129_298-128insTGT
ENST00000538696.5:c.394-129_394-128insTGT	ENSP00000445770.1:n.394-129_394-128insTGT
ENST00000562767.1:c.84-14364_84-14363insTGT	ENSP00000456336.1:n.84-14364_84-14363insTGT
ENST00000563917.1:n.79-129_79-128insTGT
ENST00000564752.1:c.298-129_298-128insTGT	ENSP00000457822.1:n.298-129_298-128insTGT
ENST00000565471.5:c.84-2233_84-2232insTGT	ENSP00000457384.1:n.84-2233_84-2232insTGT
ENST00000566347.5:c.298-674_298-673insTGT	ENSP00000457783.1:n.298-674_298-673insTGT
ENST00000567060.5:c.298-2272_298-2271insTGT	ENSP00000454818.1:n.298-2272_298-2271insTGT
NM_017882.2:c.298-129_298-128insTGT	NP_060352.1:n.298-129_298-128insTGT
XR_931861.1:n.401-129_401-128insTGT
NM_017882.3:c.298-129_298-128insTGT MANE Select	NP_060352.1:n.298-129_298-128insTGT