Canonical Allele Identifier: CA2184876894
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68207609T= , CM000677.2:g.68207609T= GRCh38
NC_000015.9:g.68499947T= , CM000677.1:g.68499947T= GRCh37
NC_000015.8:g.66287001T= NCBI36
NG_008764.2:g.54603A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.*531A= MANE Select ENSP00000249806.5:n.*531A=
ENST00000562767.2:c.84-9981A= ENSP00000456336.1:n.84-9981A=
ENST00000636964.1:n.2995A=
ENST00000637054.1:c.199-9981A= ENSP00000490807.1:n.199-9981A=
ENST00000637888.1:c.199-9981A= ENSP00000490546.1:n.199-9981A=
ENST00000638026.1:n.72A=
ENST00000638076.1:c.*1070A= ENSP00000490373.1:n.*1070A=
ENST00000646164.1:c.39-7928A=
ENST00000249806.9:c.*531A= ENSP00000249806.5:n.*531A=
ENST00000562767.1:c.84-9981A= ENSP00000456336.1:n.84-9981A=
NM_017882.2:c.*531A= NP_060352.1:n.*531A=
NM_017882.3:c.*531A= MANE Select NP_060352.1:n.*531A=