Canonical Allele Identifier: CA2184877673
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208132C= , CM000677.2:g.68208132C= GRCh38
NC_000015.9:g.68500470C= , CM000677.1:g.68500470C= GRCh37
NC_000015.8:g.66287524C= NCBI36
NG_008764.2:g.54080G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*8G= MANE Select ENSP00000249806.5:n.*8G=
ENST00000562767.2:c.84-10504G= ENSP00000456336.1:n.84-10504G=
ENST00000565471.6:c.*8G= ENSP00000457384.1:n.*8G=
ENST00000635747.1:c.*847G= ENSP00000490627.1:n.*847G=
ENST00000636964.1:n.2472G=
ENST00000637054.1:c.198+10404G= ENSP00000490807.1:n.198+10404G=
ENST00000637329.1:c.913G=
ENST00000637494.1:c.*8G= ENSP00000490057.1:n.*8G=
ENST00000637888.1:c.198+10404G= ENSP00000490546.1:n.198+10404G=
ENST00000638076.1:c.*547G= ENSP00000490373.1:n.*547G=
ENST00000646164.1:c.39-8451G=
ENST00000249806.9:c.*8G= ENSP00000249806.5:n.*8G=
ENST00000538696.5:c.*8G= ENSP00000445770.1:n.*8G=
ENST00000562767.1:c.84-10504G= ENSP00000456336.1:n.84-10504G=
ENST00000565471.5:c.*8G= ENSP00000457384.1:n.*8G=
ENST00000566347.5:c.*8G= ENSP00000457783.1:n.*8G=
ENST00000567060.5:c.*342G= ENSP00000454818.1:n.*342G=
NM_017882.2:c.*8G= NP_060352.1:n.*8G=
NM_017882.3:c.*8G= MANE Select NP_060352.1:n.*8G=