Canonical Allele Identifier: CA2804592519
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209734del , CM000677.2:g.68209734del GRCh38
NC_000015.9:g.68502072del , CM000677.1:g.68502072del GRCh37
NC_000015.8:g.66289126del NCBI36
NG_008764.2:g.52479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.569del MANE Select ENSP00000249806.5:p.Phe190SerfsTer16
ENST00000562767.2:c.84-12105del ENSP00000456336.1:n.84-12105del
ENST00000563917.2:n.411del
ENST00000565471.6:c.110del ENSP00000457384.1:p.Phe37SerfsTer16
ENST00000635747.1:c.*472del ENSP00000490627.1:n.*472del
ENST00000636212.1:c.*239del ENSP00000489851.1:n.*239del
ENST00000636314.1:c.265del ENSP00000490295.1:p.Ser89HisfsTer11
ENST00000636674.1:n.1671del
ENST00000636964.1:n.2097del
ENST00000637054.1:c.198+8803del ENSP00000490807.1:n.198+8803del
ENST00000637223.1:c.*283del ENSP00000490010.1:n.*283del
ENST00000637329.1:c.538del
ENST00000637450.1:c.*223del ENSP00000490204.1:n.*223del
ENST00000637494.1:c.281del ENSP00000490057.1:p.Phe94SerfsTer16
ENST00000637667.1:c.470del ENSP00000489843.1:p.Phe157SerfsTer16
ENST00000637823.1:c.394del
ENST00000637888.1:c.198+8803del ENSP00000490546.1:n.198+8803del
ENST00000638076.1:c.*172del ENSP00000490373.1:n.*172del
ENST00000638144.1:n.212del
ENST00000646164.1:c.38+8803del
ENST00000249806.9:c.569del ENSP00000249806.5:p.Phe190SerfsTer16
ENST00000538696.5:c.665del ENSP00000445770.1:p.Phe222SerfsTer16
ENST00000562767.1:c.84-12105del ENSP00000456336.1:n.84-12105del
ENST00000563917.1:n.469del
ENST00000564752.1:c.595del ENSP00000457822.1:p.Ser199HisfsTer11
ENST00000565471.5:c.110del ENSP00000457384.1:p.Phe37SerfsTer16
ENST00000566347.5:c.380del ENSP00000457783.1:p.Phe127SerfsTer16
ENST00000567060.5:c.298-13del ENSP00000454818.1:n.298-13del
NM_017882.2:c.569del NP_060352.1:p.Phe190SerfsTer16
XR_931861.1:n.791del
NM_017882.3:c.569del MANE Select NP_060352.1:p.Phe190SerfsTer16