Canonical Allele Identifier: CA2184877488
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208060C= , CM000677.2:g.68208060C= GRCh38
NC_000015.9:g.68500398C= , CM000677.1:g.68500398C= GRCh37
NC_000015.8:g.66287452C= NCBI36
NG_008764.2:g.54152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*80G= MANE Select ENSP00000249806.5:n.*80G=
ENST00000562767.2:c.84-10432G= ENSP00000456336.1:n.84-10432G=
ENST00000565471.6:c.*80G= ENSP00000457384.1:n.*80G=
ENST00000636964.1:n.2544G=
ENST00000637054.1:c.199-10432G= ENSP00000490807.1:n.199-10432G=
ENST00000637329.1:c.985G=
ENST00000637888.1:c.199-10432G= ENSP00000490546.1:n.199-10432G=
ENST00000638076.1:c.*619G= ENSP00000490373.1:n.*619G=
ENST00000646164.1:c.39-8379G=
ENST00000249806.9:c.*80G= ENSP00000249806.5:n.*80G=
ENST00000562767.1:c.84-10432G= ENSP00000456336.1:n.84-10432G=
ENST00000565471.5:c.*80G= ENSP00000457384.1:n.*80G=
ENST00000566347.5:c.*80G= ENSP00000457783.1:n.*80G=
ENST00000567060.5:c.*414G= ENSP00000454818.1:n.*414G=
NM_017882.2:c.*80G= NP_060352.1:n.*80G=
NM_017882.3:c.*80G= MANE Select NP_060352.1:n.*80G=