Canonical Allele Identifier: CA340157
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 4081
dbSNP Id: rs397515352

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211850dup , CM000677.2:g.68211850dup GRCh38
NC_000015.9:g.68504188dup , CM000677.1:g.68504188dup GRCh37
NC_000015.8:g.66291242dup NCBI36
NG_008764.2:g.50367dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.316dup MANE Select ENSP00000249806.5:p.Arg106ProfsTer26
ENST00000562767.2:c.84-14217dup ENSP00000456336.1:n.84-14217dup
ENST00000563917.2:n.158dup
ENST00000565471.6:c.84-2086dup ENSP00000457384.1:n.84-2086dup
ENST00000635747.1:c.*219dup ENSP00000490627.1:n.*219dup
ENST00000636212.1:c.298-104dup ENSP00000489851.1:n.298-104dup
ENST00000636314.1:c.183-527dup ENSP00000490295.1:n.183-527dup
ENST00000636674.1:n.1299dup
ENST00000636964.1:n.1488dup
ENST00000637054.1:c.198+6691dup ENSP00000490807.1:n.198+6691dup
ENST00000637223.1:c.*201-527dup ENSP00000490010.1:n.*201-527dup
ENST00000637329.1:c.285dup
ENST00000637450.1:c.201dup ENSP00000490204.1:p.Ala68ArgfsTer?
ENST00000637494.1:c.199-527dup ENSP00000490057.1:n.199-527dup
ENST00000637667.1:c.217dup ENSP00000489843.1:p.Arg73ProfsTer26
ENST00000637823.1:c.224-202dup
ENST00000637888.1:c.198+6691dup ENSP00000490546.1:n.198+6691dup
ENST00000638076.1:c.316dup ENSP00000490373.1:p.Arg106ProfsTer26
ENST00000638144.1:n.130-527dup
ENST00000646164.1:c.38+6691dup
ENST00000249806.9:c.316dup ENSP00000249806.5:p.Arg106ProfsTer26
ENST00000538696.5:c.412dup ENSP00000445770.1:p.Arg138ProfsTer26
ENST00000562767.1:c.84-14217dup ENSP00000456336.1:n.84-14217dup
ENST00000563917.1:n.97dup
ENST00000564752.1:c.316dup ENSP00000457822.1:p.Arg106ProfsTer26
ENST00000565471.5:c.84-2086dup ENSP00000457384.1:n.84-2086dup
ENST00000566347.5:c.298-527dup ENSP00000457783.1:n.298-527dup
ENST00000567060.5:c.298-2125dup ENSP00000454818.1:n.298-2125dup
NM_017882.2:c.316dup NP_060352.1:p.Arg106ProfsTer26
XR_931861.1:n.419dup
NM_017882.3:c.316dup MANE Select NP_060352.1:p.Arg106ProfsTer26