Canonical Allele Identifier: CA2697549161
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762273
ClinVar RCV Id: RCV003532396

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211659dup , CM000677.2:g.68211659dup GRCh38
NC_000015.9:g.68503997dup , CM000677.1:g.68503997dup GRCh37
NC_000015.8:g.66291051dup NCBI36
NG_008764.2:g.50553dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.486+16dup MANE Select ENSP00000249806.5:n.486+16dup
ENST00000562767.2:c.84-14031dup ENSP00000456336.1:n.84-14031dup
ENST00000563917.2:n.328+16dup
ENST00000565471.6:c.84-1900dup ENSP00000457384.1:n.84-1900dup
ENST00000635747.1:c.*389+16dup ENSP00000490627.1:n.*389+16dup
ENST00000636212.1:c.*53dup ENSP00000489851.1:n.*53dup
ENST00000636314.1:c.183-341dup ENSP00000490295.1:n.183-341dup
ENST00000636674.1:n.1485dup
ENST00000636964.1:n.1674dup
ENST00000637054.1:c.198+6877dup ENSP00000490807.1:n.198+6877dup
ENST00000637223.1:c.*201-341dup ENSP00000490010.1:n.*201-341dup
ENST00000637329.1:c.455+16dup
ENST00000637450.1:c.*140+16dup ENSP00000490204.1:n.*140+16dup
ENST00000637494.1:c.199-341dup ENSP00000490057.1:n.199-341dup
ENST00000637667.1:c.387+16dup ENSP00000489843.1:n.387+16dup
ENST00000637823.1:c.224-16dup
ENST00000637888.1:c.198+6877dup ENSP00000490546.1:n.198+6877dup
ENST00000638076.1:c.502dup ENSP00000490373.1:p.Ala168GlyfsTer?
ENST00000638144.1:n.130-341dup
ENST00000646164.1:c.38+6877dup
ENST00000249806.9:c.486+16dup ENSP00000249806.5:n.486+16dup
ENST00000538696.5:c.582+16dup ENSP00000445770.1:n.582+16dup
ENST00000562767.1:c.84-14031dup ENSP00000456336.1:n.84-14031dup
ENST00000563917.1:n.283dup
ENST00000564752.1:c.502dup ENSP00000457822.1:p.Ala168GlyfsTer?
ENST00000565471.5:c.84-1900dup ENSP00000457384.1:n.84-1900dup
ENST00000566347.5:c.298-341dup ENSP00000457783.1:n.298-341dup
ENST00000567060.5:c.298-1939dup ENSP00000454818.1:n.298-1939dup
NM_017882.2:c.486+16dup NP_060352.1:n.486+16dup
XR_931861.1:n.605dup
NM_017882.3:c.486+16dup MANE Select NP_060352.1:n.486+16dup