Canonical Allele Identifier: CA2629165248

Gene: CLN6

Linked Data

• gnomAD v4: 15-68212006-G-GCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212013_68212017dup , CM000677.2:g.68212013_68212017dup	GRCh38
NC_000015.9:g.68504351_68504355dup , CM000677.1:g.68504351_68504355dup	GRCh37
NC_000015.8:g.66291405_66291409dup	NCBI36
NG_008764.2:g.50201_50205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-148_298-144dup MANE Select	ENSP00000249806.5:n.298-148_298-144dup
ENST00000562767.2:c.84-14383_84-14379dup	ENSP00000456336.1:n.84-14383_84-14379dup
ENST00000563917.2:n.140-148_140-144dup
ENST00000565471.6:c.84-2252_84-2248dup	ENSP00000457384.1:n.84-2252_84-2248dup
ENST00000635747.1:c.*201-148_*201-144dup	ENSP00000490627.1:n.*201-148_*201-144dup
ENST00000636212.1:c.298-270_298-266dup	ENSP00000489851.1:n.298-270_298-266dup
ENST00000636314.1:c.183-693_183-689dup	ENSP00000490295.1:n.183-693_183-689dup
ENST00000636674.1:n.1133_1137dup
ENST00000636964.1:n.1322_1326dup
ENST00000637054.1:c.198+6525_198+6529dup	ENSP00000490807.1:n.198+6525_198+6529dup
ENST00000637223.1:c.*201-693_*201-689dup	ENSP00000490010.1:n.*201-693_*201-689dup
ENST00000637329.1:c.209-90_209-86dup
ENST00000637450.1:c.183-148_183-144dup	ENSP00000490204.1:n.183-148_183-144dup
ENST00000637494.1:c.199-693_199-689dup	ENSP00000490057.1:n.199-693_199-689dup
ENST00000637667.1:c.199-148_199-144dup	ENSP00000489843.1:n.199-148_199-144dup
ENST00000637823.1:c.224-368_224-364dup
ENST00000637888.1:c.198+6525_198+6529dup	ENSP00000490546.1:n.198+6525_198+6529dup
ENST00000638076.1:c.298-148_298-144dup	ENSP00000490373.1:n.298-148_298-144dup
ENST00000638144.1:n.130-693_130-689dup
ENST00000646164.1:c.38+6525_38+6529dup
ENST00000249806.9:c.298-148_298-144dup	ENSP00000249806.5:n.298-148_298-144dup
ENST00000538696.5:c.394-148_394-144dup	ENSP00000445770.1:n.394-148_394-144dup
ENST00000562767.1:c.84-14383_84-14379dup	ENSP00000456336.1:n.84-14383_84-14379dup
ENST00000563917.1:n.79-148_79-144dup
ENST00000564752.1:c.298-148_298-144dup	ENSP00000457822.1:n.298-148_298-144dup
ENST00000565471.5:c.84-2252_84-2248dup	ENSP00000457384.1:n.84-2252_84-2248dup
ENST00000566347.5:c.298-693_298-689dup	ENSP00000457783.1:n.298-693_298-689dup
ENST00000567060.5:c.297+2279_297+2283dup	ENSP00000454818.1:n.297+2279_297+2283dup
NM_017882.2:c.298-148_298-144dup	NP_060352.1:n.298-148_298-144dup
XR_931861.1:n.401-148_401-144dup
NM_017882.3:c.298-148_298-144dup MANE Select	NP_060352.1:n.298-148_298-144dup