Canonical Allele Identifier: CA2184877232
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68207895G= , CM000677.2:g.68207895G= GRCh38
NC_000015.9:g.68500233G= , CM000677.1:g.68500233G= GRCh37
NC_000015.8:g.66287287G= NCBI36
NG_008764.2:g.54317C=

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.*245C= MANE Select ENSP00000249806.5:n.*245C=
ENST00000562767.2:c.84-10267C= ENSP00000456336.1:n.84-10267C=
ENST00000565471.6:c.*245C= ENSP00000457384.1:n.*245C=
ENST00000636964.1:n.2709C=
ENST00000637054.1:c.199-10267C= ENSP00000490807.1:n.199-10267C=
ENST00000637329.1:c.1150C=
ENST00000637888.1:c.199-10267C= ENSP00000490546.1:n.199-10267C=
ENST00000638076.1:c.*784C= ENSP00000490373.1:n.*784C=
ENST00000646164.1:c.39-8214C=
ENST00000249806.9:c.*245C= ENSP00000249806.5:n.*245C=
ENST00000562767.1:c.84-10267C= ENSP00000456336.1:n.84-10267C=
ENST00000565471.5:c.*245C= ENSP00000457384.1:n.*245C=
NM_017882.2:c.*245C= NP_060352.1:n.*245C=
NM_017882.3:c.*245C= MANE Select NP_060352.1:n.*245C=