Canonical Allele Identifier: CA2184873028
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211994T= , CM000677.2:g.68211994T= GRCh38
NC_000015.9:g.68504332T= , CM000677.1:g.68504332T= GRCh37
NC_000015.8:g.66291386T= NCBI36
NG_008764.2:g.50218A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.298-131A= MANE Select ENSP00000249806.5:n.298-131A=
ENST00000562767.2:c.84-14366A= ENSP00000456336.1:n.84-14366A=
ENST00000563917.2:n.140-131A=
ENST00000565471.6:c.84-2235A= ENSP00000457384.1:n.84-2235A=
ENST00000635747.1:c.*201-131A= ENSP00000490627.1:n.*201-131A=
ENST00000636212.1:c.298-253A= ENSP00000489851.1:n.298-253A=
ENST00000636314.1:c.183-676A= ENSP00000490295.1:n.183-676A=
ENST00000636674.1:n.1150A=
ENST00000636964.1:n.1339A=
ENST00000637054.1:c.198+6542A= ENSP00000490807.1:n.198+6542A=
ENST00000637223.1:c.*201-676A= ENSP00000490010.1:n.*201-676A=
ENST00000637329.1:c.209-73A=
ENST00000637450.1:c.183-131A= ENSP00000490204.1:n.183-131A=
ENST00000637494.1:c.199-676A= ENSP00000490057.1:n.199-676A=
ENST00000637667.1:c.199-131A= ENSP00000489843.1:n.199-131A=
ENST00000637823.1:c.224-351A=
ENST00000637888.1:c.198+6542A= ENSP00000490546.1:n.198+6542A=
ENST00000638076.1:c.298-131A= ENSP00000490373.1:n.298-131A=
ENST00000638144.1:n.130-676A=
ENST00000646164.1:c.38+6542A=
ENST00000249806.9:c.298-131A= ENSP00000249806.5:n.298-131A=
ENST00000538696.5:c.394-131A= ENSP00000445770.1:n.394-131A=
ENST00000562767.1:c.84-14366A= ENSP00000456336.1:n.84-14366A=
ENST00000563917.1:n.79-131A=
ENST00000564752.1:c.298-131A= ENSP00000457822.1:n.298-131A=
ENST00000565471.5:c.84-2235A= ENSP00000457384.1:n.84-2235A=
ENST00000566347.5:c.298-676A= ENSP00000457783.1:n.298-676A=
ENST00000567060.5:c.298-2274A= ENSP00000454818.1:n.298-2274A=
NM_017882.2:c.298-131A= NP_060352.1:n.298-131A=
XR_931861.1:n.401-131A=
NM_017882.3:c.298-131A= MANE Select NP_060352.1:n.298-131A=