Canonical Allele Identifier: CA2184877480
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208059A= , CM000677.2:g.68208059A= GRCh38
NC_000015.9:g.68500397A= , CM000677.1:g.68500397A= GRCh37
NC_000015.8:g.66287451A= NCBI36
NG_008764.2:g.54153T=

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.*81T= MANE Select ENSP00000249806.5:n.*81T=
ENST00000562767.2:c.84-10431T= ENSP00000456336.1:n.84-10431T=
ENST00000565471.6:c.*81T= ENSP00000457384.1:n.*81T=
ENST00000636964.1:n.2545T=
ENST00000637054.1:c.199-10431T= ENSP00000490807.1:n.199-10431T=
ENST00000637329.1:c.986T=
ENST00000637888.1:c.199-10431T= ENSP00000490546.1:n.199-10431T=
ENST00000638076.1:c.*620T= ENSP00000490373.1:n.*620T=
ENST00000646164.1:c.39-8378T=
ENST00000249806.9:c.*81T= ENSP00000249806.5:n.*81T=
ENST00000562767.1:c.84-10431T= ENSP00000456336.1:n.84-10431T=
ENST00000565471.5:c.*81T= ENSP00000457384.1:n.*81T=
ENST00000566347.5:c.*81T= ENSP00000457783.1:n.*81T=
ENST00000567060.5:c.*415T= ENSP00000454818.1:n.*415T=
NM_017882.2:c.*81T= NP_060352.1:n.*81T=
NM_017882.3:c.*81T= MANE Select NP_060352.1:n.*81T=