Canonical Allele Identifier: CA252982
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 4080
ClinVar RCV Id: RCV000004295
dbSNP Id: rs786205065

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68229579del , CM000677.2:g.68229579del GRCh38
NC_000015.9:g.68521917del , CM000677.1:g.68521917del GRCh37
NC_000015.8:g.66308971del NCBI36
NG_008764.2:g.32634del

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.7del MANE Select ENSP00000249806.5:p.Ala3ArgfsTer30
ENST00000562767.2:c.7del ENSP00000456336.1:p.Ala3ArgfsTer?
ENST00000563917.2:n.41-15190del
ENST00000565471.6:c.7del ENSP00000457384.1:p.Ala3ArgfsTer?
ENST00000635747.1:c.173-10928del ENSP00000490627.1:n.173-10928del
ENST00000636020.1:n.139del
ENST00000636212.1:c.7del ENSP00000489851.1:p.Ala3ArgfsTer30
ENST00000636314.1:c.7del ENSP00000490295.1:p.Ala3ArgfsTer?
ENST00000636876.1:c.*104-10928del ENSP00000489950.1:n.*104-10928del
ENST00000637054.1:c.7del ENSP00000490807.1:p.Ala3ArgfsTer30
ENST00000637223.1:c.173-10928del ENSP00000490010.1:n.173-10928del
ENST00000637450.1:c.7del ENSP00000490204.1:p.Ala3ArgfsTer?
ENST00000637494.1:c.7del ENSP00000490057.1:p.Ala3ArgfsTer30
ENST00000637667.1:c.7del ENSP00000489843.1:p.Ala3ArgfsTer30
ENST00000637888.1:c.7del ENSP00000490546.1:p.Ala3ArgfsTer30
ENST00000638076.1:c.7del ENSP00000490373.1:p.Ala3ArgfsTer30
ENST00000638144.1:n.31-15190del
ENST00000249806.9:c.7del ENSP00000249806.5:p.Ala3ArgfsTer30
ENST00000538696.5:c.180-10928del ENSP00000445770.1:n.180-10928del
ENST00000562767.1:c.7del ENSP00000456336.1:p.Ala3ArgfsTer?
ENST00000564752.1:c.7del ENSP00000457822.1:p.Ala3ArgfsTer30
ENST00000564846.1:n.516-10928del
ENST00000565471.5:c.7del ENSP00000457384.1:p.Ala3ArgfsTer?
ENST00000566347.5:c.7del ENSP00000457783.1:p.Ala3ArgfsTer30
ENST00000567060.5:c.7del ENSP00000454818.1:p.Ala3ArgfsTer30
ENST00000569336.1:n.93del
NM_017882.2:c.7del NP_060352.1:p.Ala3ArgfsTer30
XR_931861.1:n.110del
NM_017882.3:c.7del MANE Select NP_060352.1:p.Ala3ArgfsTer30