Canonical Allele Identifier: CA2184877496
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208064C= , CM000677.2:g.68208064C= GRCh38
NC_000015.9:g.68500402C= , CM000677.1:g.68500402C= GRCh37
NC_000015.8:g.66287456C= NCBI36
NG_008764.2:g.54148G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*76G= MANE Select ENSP00000249806.5:n.*76G=
ENST00000562767.2:c.84-10436G= ENSP00000456336.1:n.84-10436G=
ENST00000565471.6:c.*76G= ENSP00000457384.1:n.*76G=
ENST00000636964.1:n.2540G=
ENST00000637054.1:c.199-10436G= ENSP00000490807.1:n.199-10436G=
ENST00000637329.1:c.981G=
ENST00000637888.1:c.199-10436G= ENSP00000490546.1:n.199-10436G=
ENST00000638076.1:c.*615G= ENSP00000490373.1:n.*615G=
ENST00000646164.1:c.39-8383G=
ENST00000249806.9:c.*76G= ENSP00000249806.5:n.*76G=
ENST00000562767.1:c.84-10436G= ENSP00000456336.1:n.84-10436G=
ENST00000565471.5:c.*76G= ENSP00000457384.1:n.*76G=
ENST00000566347.5:c.*76G= ENSP00000457783.1:n.*76G=
ENST00000567060.5:c.*410G= ENSP00000454818.1:n.*410G=
NM_017882.2:c.*76G= NP_060352.1:n.*76G=
NM_017882.3:c.*76G= MANE Select NP_060352.1:n.*76G=