Canonical Allele Identifier: CA2184876902
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68207615G= , CM000677.2:g.68207615G= GRCh38
NC_000015.9:g.68499953G= , CM000677.1:g.68499953G= GRCh37
NC_000015.8:g.66287007G= NCBI36
NG_008764.2:g.54597C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*525C= MANE Select ENSP00000249806.5:n.*525C=
ENST00000562767.2:c.84-9987C= ENSP00000456336.1:n.84-9987C=
ENST00000636964.1:n.2989C=
ENST00000637054.1:c.199-9987C= ENSP00000490807.1:n.199-9987C=
ENST00000637888.1:c.199-9987C= ENSP00000490546.1:n.199-9987C=
ENST00000638026.1:n.66C=
ENST00000638076.1:c.*1064C= ENSP00000490373.1:n.*1064C=
ENST00000646164.1:c.39-7934C=
ENST00000249806.9:c.*525C= ENSP00000249806.5:n.*525C=
ENST00000562767.1:c.84-9987C= ENSP00000456336.1:n.84-9987C=
NM_017882.2:c.*525C= NP_060352.1:n.*525C=
NM_017882.3:c.*525C= MANE Select NP_060352.1:n.*525C=