Canonical Allele Identifier: CA2804591362

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212002_68212007del , CM000677.2:g.68212002_68212007del	GRCh38
NC_000015.9:g.68504340_68504345del , CM000677.1:g.68504340_68504345del	GRCh37
NC_000015.8:g.66291394_66291399del	NCBI36
NG_008764.2:g.50205_50210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-144_298-139del MANE Select	ENSP00000249806.5:n.298-144_298-139del
ENST00000562767.2:c.84-14379_84-14374del	ENSP00000456336.1:n.84-14379_84-14374del
ENST00000563917.2:n.140-144_140-139del
ENST00000565471.6:c.84-2248_84-2243del	ENSP00000457384.1:n.84-2248_84-2243del
ENST00000635747.1:c.*201-144_*201-139del	ENSP00000490627.1:n.*201-144_*201-139del
ENST00000636212.1:c.298-266_298-261del	ENSP00000489851.1:n.298-266_298-261del
ENST00000636314.1:c.183-689_183-684del	ENSP00000490295.1:n.183-689_183-684del
ENST00000636674.1:n.1137_1142del
ENST00000636964.1:n.1326_1331del
ENST00000637054.1:c.198+6529_198+6534del	ENSP00000490807.1:n.198+6529_198+6534del
ENST00000637223.1:c.*201-689_*201-684del	ENSP00000490010.1:n.*201-689_*201-684del
ENST00000637329.1:c.209-86_209-81del
ENST00000637450.1:c.183-144_183-139del	ENSP00000490204.1:n.183-144_183-139del
ENST00000637494.1:c.199-689_199-684del	ENSP00000490057.1:n.199-689_199-684del
ENST00000637667.1:c.199-144_199-139del	ENSP00000489843.1:n.199-144_199-139del
ENST00000637823.1:c.224-364_224-359del
ENST00000637888.1:c.198+6529_198+6534del	ENSP00000490546.1:n.198+6529_198+6534del
ENST00000638076.1:c.298-144_298-139del	ENSP00000490373.1:n.298-144_298-139del
ENST00000638144.1:n.130-689_130-684del
ENST00000646164.1:c.38+6529_38+6534del
ENST00000249806.9:c.298-144_298-139del	ENSP00000249806.5:n.298-144_298-139del
ENST00000538696.5:c.394-144_394-139del	ENSP00000445770.1:n.394-144_394-139del
ENST00000562767.1:c.84-14379_84-14374del	ENSP00000456336.1:n.84-14379_84-14374del
ENST00000563917.1:n.79-144_79-139del
ENST00000564752.1:c.298-144_298-139del	ENSP00000457822.1:n.298-144_298-139del
ENST00000565471.5:c.84-2248_84-2243del	ENSP00000457384.1:n.84-2248_84-2243del
ENST00000566347.5:c.298-689_298-684del	ENSP00000457783.1:n.298-689_298-684del
ENST00000567060.5:c.297+2283_298-2282del	ENSP00000454818.1:n.297+2283_298-2282del
NM_017882.2:c.298-144_298-139del	NP_060352.1:n.298-144_298-139del
XR_931861.1:n.401-144_401-139del
NM_017882.3:c.298-144_298-139del MANE Select	NP_060352.1:n.298-144_298-139del