Canonical Allele Identifier: CA2804591303

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211950_68211955del , CM000677.2:g.68211950_68211955del	GRCh38
NC_000015.9:g.68504288_68504293del , CM000677.1:g.68504288_68504293del	GRCh37
NC_000015.8:g.66291342_66291347del	NCBI36
NG_008764.2:g.50258_50263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-91_298-86del MANE Select	ENSP00000249806.5:n.298-91_298-86del
ENST00000562767.2:c.84-14326_84-14321del	ENSP00000456336.1:n.84-14326_84-14321del
ENST00000563917.2:n.140-91_140-86del
ENST00000565471.6:c.84-2195_84-2190del	ENSP00000457384.1:n.84-2195_84-2190del
ENST00000635747.1:c.*201-91_*201-86del	ENSP00000490627.1:n.*201-91_*201-86del
ENST00000636212.1:c.298-213_298-208del	ENSP00000489851.1:n.298-213_298-208del
ENST00000636314.1:c.183-636_183-631del	ENSP00000490295.1:n.183-636_183-631del
ENST00000636674.1:n.1190_1195del
ENST00000636964.1:n.1379_1384del
ENST00000637054.1:c.198+6582_198+6587del	ENSP00000490807.1:n.198+6582_198+6587del
ENST00000637223.1:c.*201-636_*201-631del	ENSP00000490010.1:n.*201-636_*201-631del
ENST00000637329.1:c.209-33_209-28del
ENST00000637450.1:c.183-91_183-86del	ENSP00000490204.1:n.183-91_183-86del
ENST00000637494.1:c.199-636_199-631del	ENSP00000490057.1:n.199-636_199-631del
ENST00000637667.1:c.199-91_199-86del	ENSP00000489843.1:n.199-91_199-86del
ENST00000637823.1:c.224-311_224-306del
ENST00000637888.1:c.198+6582_198+6587del	ENSP00000490546.1:n.198+6582_198+6587del
ENST00000638076.1:c.298-91_298-86del	ENSP00000490373.1:n.298-91_298-86del
ENST00000638144.1:n.130-636_130-631del
ENST00000646164.1:c.38+6582_38+6587del
ENST00000249806.9:c.298-91_298-86del	ENSP00000249806.5:n.298-91_298-86del
ENST00000538696.5:c.394-91_394-86del	ENSP00000445770.1:n.394-91_394-86del
ENST00000562767.1:c.84-14326_84-14321del	ENSP00000456336.1:n.84-14326_84-14321del
ENST00000563917.1:n.79-91_79-86del
ENST00000564752.1:c.298-91_298-86del	ENSP00000457822.1:n.298-91_298-86del
ENST00000565471.5:c.84-2195_84-2190del	ENSP00000457384.1:n.84-2195_84-2190del
ENST00000566347.5:c.298-636_298-631del	ENSP00000457783.1:n.298-636_298-631del
ENST00000567060.5:c.298-2234_298-2229del	ENSP00000454818.1:n.298-2234_298-2229del
NM_017882.2:c.298-91_298-86del	NP_060352.1:n.298-91_298-86del
XR_931861.1:n.401-91_401-86del
NM_017882.3:c.298-91_298-86del MANE Select	NP_060352.1:n.298-91_298-86del