Canonical Allele Identifier: CA2184878483
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208578T= , CM000677.2:g.68208578T= GRCh38
NC_000015.9:g.68500916T= , CM000677.1:g.68500916T= GRCh37
NC_000015.8:g.66287970T= NCBI36
NG_008764.2:g.53634A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.666-168A= MANE Select ENSP00000249806.5:n.666-168A=
ENST00000562767.2:c.84-10950A= ENSP00000456336.1:n.84-10950A=
ENST00000563917.2:n.508-168A=
ENST00000565471.6:c.207-168A= ENSP00000457384.1:n.207-168A=
ENST00000635747.1:c.*569-168A= ENSP00000490627.1:n.*569-168A=
ENST00000636212.1:c.*336-168A= ENSP00000489851.1:n.*336-168A=
ENST00000636674.1:n.1768-168A=
ENST00000636964.1:n.2194-168A=
ENST00000637054.1:c.198+9958A= ENSP00000490807.1:n.198+9958A=
ENST00000637329.1:c.635-168A=
ENST00000637450.1:c.*320-168A= ENSP00000490204.1:n.*320-168A=
ENST00000637494.1:c.378-168A= ENSP00000490057.1:n.378-168A=
ENST00000637667.1:c.567-168A= ENSP00000489843.1:n.567-168A=
ENST00000637823.1:c.491-168A=
ENST00000637888.1:c.198+9958A= ENSP00000490546.1:n.198+9958A=
ENST00000638076.1:c.*269-168A= ENSP00000490373.1:n.*269-168A=
ENST00000638144.1:n.309-168A=
ENST00000646164.1:c.39-8897A=
ENST00000249806.9:c.666-168A= ENSP00000249806.5:n.666-168A=
ENST00000538696.5:c.762-168A= ENSP00000445770.1:n.762-168A=
ENST00000562767.1:c.84-10950A= ENSP00000456336.1:n.84-10950A=
ENST00000564752.1:c.*50-168A= ENSP00000457822.1:n.*50-168A=
ENST00000565471.5:c.207-168A= ENSP00000457384.1:n.207-168A=
ENST00000566347.5:c.477-168A= ENSP00000457783.1:n.477-168A=
ENST00000567060.5:c.*64-168A= ENSP00000454818.1:n.*64-168A=
NM_017882.2:c.666-168A= NP_060352.1:n.666-168A=
XR_931861.1:n.888-168A=
NM_017882.3:c.666-168A= MANE Select NP_060352.1:n.666-168A=