Canonical Allele Identifier: CA2184872921
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211887A= , CM000677.2:g.68211887A= GRCh38
NC_000015.9:g.68504225A= , CM000677.1:g.68504225A= GRCh37
NC_000015.8:g.66291279A= NCBI36
NG_008764.2:g.50325T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.298-24T= MANE Select ENSP00000249806.5:n.298-24T=
ENST00000562767.2:c.84-14259T= ENSP00000456336.1:n.84-14259T=
ENST00000563917.2:n.140-24T=
ENST00000565471.6:c.84-2128T= ENSP00000457384.1:n.84-2128T=
ENST00000635747.1:c.*201-24T= ENSP00000490627.1:n.*201-24T=
ENST00000636212.1:c.298-146T= ENSP00000489851.1:n.298-146T=
ENST00000636314.1:c.183-569T= ENSP00000490295.1:n.183-569T=
ENST00000636674.1:n.1257T=
ENST00000636964.1:n.1446T=
ENST00000637054.1:c.198+6649T= ENSP00000490807.1:n.198+6649T=
ENST00000637223.1:c.*201-569T= ENSP00000490010.1:n.*201-569T=
ENST00000637329.1:c.243T=
ENST00000637450.1:c.183-24T= ENSP00000490204.1:n.183-24T=
ENST00000637494.1:c.199-569T= ENSP00000490057.1:n.199-569T=
ENST00000637667.1:c.199-24T= ENSP00000489843.1:n.199-24T=
ENST00000637823.1:c.224-244T=
ENST00000637888.1:c.198+6649T= ENSP00000490546.1:n.198+6649T=
ENST00000638076.1:c.298-24T= ENSP00000490373.1:n.298-24T=
ENST00000638144.1:n.130-569T=
ENST00000646164.1:c.38+6649T=
ENST00000249806.9:c.298-24T= ENSP00000249806.5:n.298-24T=
ENST00000538696.5:c.394-24T= ENSP00000445770.1:n.394-24T=
ENST00000562767.1:c.84-14259T= ENSP00000456336.1:n.84-14259T=
ENST00000563917.1:n.79-24T=
ENST00000564752.1:c.298-24T= ENSP00000457822.1:n.298-24T=
ENST00000565471.5:c.84-2128T= ENSP00000457384.1:n.84-2128T=
ENST00000566347.5:c.298-569T= ENSP00000457783.1:n.298-569T=
ENST00000567060.5:c.298-2167T= ENSP00000454818.1:n.298-2167T=
NM_017882.2:c.298-24T= NP_060352.1:n.298-24T=
XR_931861.1:n.401-24T=
NM_017882.3:c.298-24T= MANE Select NP_060352.1:n.298-24T=