Canonical Allele Identifier: CA2184876912
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68207625C= , CM000677.2:g.68207625C= GRCh38
NC_000015.9:g.68499963C= , CM000677.1:g.68499963C= GRCh37
NC_000015.8:g.66287017C= NCBI36
NG_008764.2:g.54587G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*515G= MANE Select ENSP00000249806.5:n.*515G=
ENST00000562767.2:c.84-9997G= ENSP00000456336.1:n.84-9997G=
ENST00000636964.1:n.2979G=
ENST00000637054.1:c.199-9997G= ENSP00000490807.1:n.199-9997G=
ENST00000637888.1:c.199-9997G= ENSP00000490546.1:n.199-9997G=
ENST00000638026.1:n.56G=
ENST00000638076.1:c.*1054G= ENSP00000490373.1:n.*1054G=
ENST00000646164.1:c.39-7944G=
ENST00000249806.9:c.*515G= ENSP00000249806.5:n.*515G=
ENST00000562767.1:c.84-9997G= ENSP00000456336.1:n.84-9997G=
NM_017882.2:c.*515G= NP_060352.1:n.*515G=
NM_017882.3:c.*515G= MANE Select NP_060352.1:n.*515G=