Canonical Allele Identifier: CA2804591392

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212016_68212020del , CM000677.2:g.68212016_68212020del	GRCh38
NC_000015.9:g.68504354_68504358del , CM000677.1:g.68504354_68504358del	GRCh37
NC_000015.8:g.66291408_66291412del	NCBI36
NG_008764.2:g.50192_50196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-157_298-153del MANE Select	ENSP00000249806.5:n.298-157_298-153del
ENST00000562767.2:c.84-14392_84-14388del	ENSP00000456336.1:n.84-14392_84-14388del
ENST00000563917.2:n.140-157_140-153del
ENST00000565471.6:c.84-2261_84-2257del	ENSP00000457384.1:n.84-2261_84-2257del
ENST00000635747.1:c.*201-157_*201-153del	ENSP00000490627.1:n.*201-157_*201-153del
ENST00000636212.1:c.298-279_298-275del	ENSP00000489851.1:n.298-279_298-275del
ENST00000636314.1:c.183-702_183-698del	ENSP00000490295.1:n.183-702_183-698del
ENST00000636674.1:n.1124_1128del
ENST00000636964.1:n.1313_1317del
ENST00000637054.1:c.198+6516_198+6520del	ENSP00000490807.1:n.198+6516_198+6520del
ENST00000637223.1:c.*201-702_*201-698del	ENSP00000490010.1:n.*201-702_*201-698del
ENST00000637329.1:c.209-99_209-95del
ENST00000637450.1:c.183-157_183-153del	ENSP00000490204.1:n.183-157_183-153del
ENST00000637494.1:c.199-702_199-698del	ENSP00000490057.1:n.199-702_199-698del
ENST00000637667.1:c.199-157_199-153del	ENSP00000489843.1:n.199-157_199-153del
ENST00000637823.1:c.224-377_224-373del
ENST00000637888.1:c.198+6516_198+6520del	ENSP00000490546.1:n.198+6516_198+6520del
ENST00000638076.1:c.298-157_298-153del	ENSP00000490373.1:n.298-157_298-153del
ENST00000638144.1:n.130-702_130-698del
ENST00000646164.1:c.38+6516_38+6520del
ENST00000249806.9:c.298-157_298-153del	ENSP00000249806.5:n.298-157_298-153del
ENST00000538696.5:c.394-157_394-153del	ENSP00000445770.1:n.394-157_394-153del
ENST00000562767.1:c.84-14392_84-14388del	ENSP00000456336.1:n.84-14392_84-14388del
ENST00000563917.1:n.79-157_79-153del
ENST00000564752.1:c.298-157_298-153del	ENSP00000457822.1:n.298-157_298-153del
ENST00000565471.5:c.84-2261_84-2257del	ENSP00000457384.1:n.84-2261_84-2257del
ENST00000566347.5:c.298-702_298-698del	ENSP00000457783.1:n.298-702_298-698del
ENST00000567060.5:c.297+2270_297+2274del	ENSP00000454818.1:n.297+2270_297+2274del
NM_017882.2:c.298-157_298-153del	NP_060352.1:n.298-157_298-153del
XR_931861.1:n.401-157_401-153del
NM_017882.3:c.298-157_298-153del MANE Select	NP_060352.1:n.298-157_298-153del