Canonical Allele Identifier: CA2804591355

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211999_68212003del , CM000677.2:g.68211999_68212003del	GRCh38
NC_000015.9:g.68504337_68504341del , CM000677.1:g.68504337_68504341del	GRCh37
NC_000015.8:g.66291391_66291395del	NCBI36
NG_008764.2:g.50209_50213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-140_298-136del MANE Select	ENSP00000249806.5:n.298-140_298-136del
ENST00000562767.2:c.84-14375_84-14371del	ENSP00000456336.1:n.84-14375_84-14371del
ENST00000563917.2:n.140-140_140-136del
ENST00000565471.6:c.84-2244_84-2240del	ENSP00000457384.1:n.84-2244_84-2240del
ENST00000635747.1:c.*201-140_*201-136del	ENSP00000490627.1:n.*201-140_*201-136del
ENST00000636212.1:c.298-262_298-258del	ENSP00000489851.1:n.298-262_298-258del
ENST00000636314.1:c.183-685_183-681del	ENSP00000490295.1:n.183-685_183-681del
ENST00000636674.1:n.1141_1145del
ENST00000636964.1:n.1330_1334del
ENST00000637054.1:c.198+6533_198+6537del	ENSP00000490807.1:n.198+6533_198+6537del
ENST00000637223.1:c.*201-685_*201-681del	ENSP00000490010.1:n.*201-685_*201-681del
ENST00000637329.1:c.209-82_209-78del
ENST00000637450.1:c.183-140_183-136del	ENSP00000490204.1:n.183-140_183-136del
ENST00000637494.1:c.199-685_199-681del	ENSP00000490057.1:n.199-685_199-681del
ENST00000637667.1:c.199-140_199-136del	ENSP00000489843.1:n.199-140_199-136del
ENST00000637823.1:c.224-360_224-356del
ENST00000637888.1:c.198+6533_198+6537del	ENSP00000490546.1:n.198+6533_198+6537del
ENST00000638076.1:c.298-140_298-136del	ENSP00000490373.1:n.298-140_298-136del
ENST00000638144.1:n.130-685_130-681del
ENST00000646164.1:c.38+6533_38+6537del
ENST00000249806.9:c.298-140_298-136del	ENSP00000249806.5:n.298-140_298-136del
ENST00000538696.5:c.394-140_394-136del	ENSP00000445770.1:n.394-140_394-136del
ENST00000562767.1:c.84-14375_84-14371del	ENSP00000456336.1:n.84-14375_84-14371del
ENST00000563917.1:n.79-140_79-136del
ENST00000564752.1:c.298-140_298-136del	ENSP00000457822.1:n.298-140_298-136del
ENST00000565471.5:c.84-2244_84-2240del	ENSP00000457384.1:n.84-2244_84-2240del
ENST00000566347.5:c.298-685_298-681del	ENSP00000457783.1:n.298-685_298-681del
ENST00000567060.5:c.298-2283_298-2279del	ENSP00000454818.1:n.298-2283_298-2279del
NM_017882.2:c.298-140_298-136del	NP_060352.1:n.298-140_298-136del
XR_931861.1:n.401-140_401-136del
NM_017882.3:c.298-140_298-136del MANE Select	NP_060352.1:n.298-140_298-136del