Canonical Allele Identifier: CA2804591307

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211963_68211975del , CM000677.2:g.68211963_68211975del	GRCh38
NC_000015.9:g.68504301_68504313del , CM000677.1:g.68504301_68504313del	GRCh37
NC_000015.8:g.66291355_66291367del	NCBI36
NG_008764.2:g.50239_50251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-110_298-98del MANE Select	ENSP00000249806.5:n.298-110_298-98del
ENST00000562767.2:c.84-14345_84-14333del	ENSP00000456336.1:n.84-14345_84-14333del
ENST00000563917.2:n.140-110_140-98del
ENST00000565471.6:c.84-2214_84-2202del	ENSP00000457384.1:n.84-2214_84-2202del
ENST00000635747.1:c.*201-110_*201-98del	ENSP00000490627.1:n.*201-110_*201-98del
ENST00000636212.1:c.298-232_298-220del	ENSP00000489851.1:n.298-232_298-220del
ENST00000636314.1:c.183-655_183-643del	ENSP00000490295.1:n.183-655_183-643del
ENST00000636674.1:n.1171_1183del
ENST00000636964.1:n.1360_1372del
ENST00000637054.1:c.198+6563_198+6575del	ENSP00000490807.1:n.198+6563_198+6575del
ENST00000637223.1:c.*201-655_*201-643del	ENSP00000490010.1:n.*201-655_*201-643del
ENST00000637329.1:c.209-52_209-40del
ENST00000637450.1:c.183-110_183-98del	ENSP00000490204.1:n.183-110_183-98del
ENST00000637494.1:c.199-655_199-643del	ENSP00000490057.1:n.199-655_199-643del
ENST00000637667.1:c.199-110_199-98del	ENSP00000489843.1:n.199-110_199-98del
ENST00000637823.1:c.224-330_224-318del
ENST00000637888.1:c.198+6563_198+6575del	ENSP00000490546.1:n.198+6563_198+6575del
ENST00000638076.1:c.298-110_298-98del	ENSP00000490373.1:n.298-110_298-98del
ENST00000638144.1:n.130-655_130-643del
ENST00000646164.1:c.38+6563_38+6575del
ENST00000249806.9:c.298-110_298-98del	ENSP00000249806.5:n.298-110_298-98del
ENST00000538696.5:c.394-110_394-98del	ENSP00000445770.1:n.394-110_394-98del
ENST00000562767.1:c.84-14345_84-14333del	ENSP00000456336.1:n.84-14345_84-14333del
ENST00000563917.1:n.79-110_79-98del
ENST00000564752.1:c.298-110_298-98del	ENSP00000457822.1:n.298-110_298-98del
ENST00000565471.5:c.84-2214_84-2202del	ENSP00000457384.1:n.84-2214_84-2202del
ENST00000566347.5:c.298-655_298-643del	ENSP00000457783.1:n.298-655_298-643del
ENST00000567060.5:c.298-2253_298-2241del	ENSP00000454818.1:n.298-2253_298-2241del
NM_017882.2:c.298-110_298-98del	NP_060352.1:n.298-110_298-98del
XR_931861.1:n.401-110_401-98del
NM_017882.3:c.298-110_298-98del MANE Select	NP_060352.1:n.298-110_298-98del