Canonical Allele Identifier: CA2804591360

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212001_68212002insCT , CM000677.2:g.68212001_68212002insCT	GRCh38
NC_000015.9:g.68504339_68504340insCT , CM000677.1:g.68504339_68504340insCT	GRCh37
NC_000015.8:g.66291393_66291394insCT	NCBI36
NG_008764.2:g.50210_50211insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-139_298-138insAG MANE Select	ENSP00000249806.5:n.298-139_298-138insAG
ENST00000562767.2:c.84-14374_84-14373insAG	ENSP00000456336.1:n.84-14374_84-14373insAG
ENST00000563917.2:n.140-139_140-138insAG
ENST00000565471.6:c.84-2243_84-2242insAG	ENSP00000457384.1:n.84-2243_84-2242insAG
ENST00000635747.1:c.*201-139_*201-138insAG	ENSP00000490627.1:n.*201-139_*201-138insAG
ENST00000636212.1:c.298-261_298-260insAG	ENSP00000489851.1:n.298-261_298-260insAG
ENST00000636314.1:c.183-684_183-683insAG	ENSP00000490295.1:n.183-684_183-683insAG
ENST00000636674.1:n.1142_1143insAG
ENST00000636964.1:n.1331_1332insAG
ENST00000637054.1:c.198+6534_198+6535insAG	ENSP00000490807.1:n.198+6534_198+6535insAG
ENST00000637223.1:c.*201-684_*201-683insAG	ENSP00000490010.1:n.*201-684_*201-683insAG
ENST00000637329.1:c.209-81_209-80insAG
ENST00000637450.1:c.183-139_183-138insAG	ENSP00000490204.1:n.183-139_183-138insAG
ENST00000637494.1:c.199-684_199-683insAG	ENSP00000490057.1:n.199-684_199-683insAG
ENST00000637667.1:c.199-139_199-138insAG	ENSP00000489843.1:n.199-139_199-138insAG
ENST00000637823.1:c.224-359_224-358insAG
ENST00000637888.1:c.198+6534_198+6535insAG	ENSP00000490546.1:n.198+6534_198+6535insAG
ENST00000638076.1:c.298-139_298-138insAG	ENSP00000490373.1:n.298-139_298-138insAG
ENST00000638144.1:n.130-684_130-683insAG
ENST00000646164.1:c.38+6534_38+6535insAG
ENST00000249806.9:c.298-139_298-138insAG	ENSP00000249806.5:n.298-139_298-138insAG
ENST00000538696.5:c.394-139_394-138insAG	ENSP00000445770.1:n.394-139_394-138insAG
ENST00000562767.1:c.84-14374_84-14373insAG	ENSP00000456336.1:n.84-14374_84-14373insAG
ENST00000563917.1:n.79-139_79-138insAG
ENST00000564752.1:c.298-139_298-138insAG	ENSP00000457822.1:n.298-139_298-138insAG
ENST00000565471.5:c.84-2243_84-2242insAG	ENSP00000457384.1:n.84-2243_84-2242insAG
ENST00000566347.5:c.298-684_298-683insAG	ENSP00000457783.1:n.298-684_298-683insAG
ENST00000567060.5:c.298-2282_298-2281insAG	ENSP00000454818.1:n.298-2282_298-2281insAG
NM_017882.2:c.298-139_298-138insAG	NP_060352.1:n.298-139_298-138insAG
XR_931861.1:n.401-139_401-138insAG
NM_017882.3:c.298-139_298-138insAG MANE Select	NP_060352.1:n.298-139_298-138insAG