Canonical Allele Identifier: CA2629165168

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211948-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211949_68211950insAG , CM000677.2:g.68211949_68211950insAG	GRCh38
NC_000015.9:g.68504287_68504288insAG , CM000677.1:g.68504287_68504288insAG	GRCh37
NC_000015.8:g.66291341_66291342insAG	NCBI36
NG_008764.2:g.50263_50264insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-86_298-85insTC MANE Select	ENSP00000249806.5:n.298-86_298-85insTC
ENST00000562767.2:c.84-14321_84-14320insTC	ENSP00000456336.1:n.84-14321_84-14320insTC
ENST00000563917.2:n.140-86_140-85insTC
ENST00000565471.6:c.84-2190_84-2189insTC	ENSP00000457384.1:n.84-2190_84-2189insTC
ENST00000635747.1:c.*201-86_*201-85insTC	ENSP00000490627.1:n.*201-86_*201-85insTC
ENST00000636212.1:c.298-208_298-207insTC	ENSP00000489851.1:n.298-208_298-207insTC
ENST00000636314.1:c.183-631_183-630insTC	ENSP00000490295.1:n.183-631_183-630insTC
ENST00000636674.1:n.1195_1196insTC
ENST00000636964.1:n.1384_1385insTC
ENST00000637054.1:c.198+6587_198+6588insTC	ENSP00000490807.1:n.198+6587_198+6588insTC
ENST00000637223.1:c.*201-631_*201-630insTC	ENSP00000490010.1:n.*201-631_*201-630insTC
ENST00000637329.1:c.209-28_209-27insTC
ENST00000637450.1:c.183-86_183-85insTC	ENSP00000490204.1:n.183-86_183-85insTC
ENST00000637494.1:c.199-631_199-630insTC	ENSP00000490057.1:n.199-631_199-630insTC
ENST00000637667.1:c.199-86_199-85insTC	ENSP00000489843.1:n.199-86_199-85insTC
ENST00000637823.1:c.224-306_224-305insTC
ENST00000637888.1:c.198+6587_198+6588insTC	ENSP00000490546.1:n.198+6587_198+6588insTC
ENST00000638076.1:c.298-86_298-85insTC	ENSP00000490373.1:n.298-86_298-85insTC
ENST00000638144.1:n.130-631_130-630insTC
ENST00000646164.1:c.38+6587_38+6588insTC
ENST00000249806.9:c.298-86_298-85insTC	ENSP00000249806.5:n.298-86_298-85insTC
ENST00000538696.5:c.394-86_394-85insTC	ENSP00000445770.1:n.394-86_394-85insTC
ENST00000562767.1:c.84-14321_84-14320insTC	ENSP00000456336.1:n.84-14321_84-14320insTC
ENST00000563917.1:n.79-86_79-85insTC
ENST00000564752.1:c.298-86_298-85insTC	ENSP00000457822.1:n.298-86_298-85insTC
ENST00000565471.5:c.84-2190_84-2189insTC	ENSP00000457384.1:n.84-2190_84-2189insTC
ENST00000566347.5:c.298-631_298-630insTC	ENSP00000457783.1:n.298-631_298-630insTC
ENST00000567060.5:c.298-2229_298-2228insTC	ENSP00000454818.1:n.298-2229_298-2228insTC
NM_017882.2:c.298-86_298-85insTC	NP_060352.1:n.298-86_298-85insTC
XR_931861.1:n.401-86_401-85insTC
NM_017882.3:c.298-86_298-85insTC MANE Select	NP_060352.1:n.298-86_298-85insTC