Canonical Allele Identifier: CA2184878923
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209181G= , CM000677.2:g.68209181G= GRCh38
NC_000015.9:g.68501519G= , CM000677.1:g.68501519G= GRCh37
NC_000015.8:g.66288573G= NCBI36
NG_008764.2:g.53031C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.665+456C= MANE Select ENSP00000249806.5:n.665+456C=
ENST00000562767.2:c.84-11553C= ENSP00000456336.1:n.84-11553C=
ENST00000563917.2:n.507+456C=
ENST00000565471.6:c.206+456C= ENSP00000457384.1:n.206+456C=
ENST00000635747.1:c.*568+456C= ENSP00000490627.1:n.*568+456C=
ENST00000636212.1:c.*335+456C= ENSP00000489851.1:n.*335+456C=
ENST00000636674.1:n.1767+456C=
ENST00000636964.1:n.2193+456C=
ENST00000637054.1:c.198+9355C= ENSP00000490807.1:n.198+9355C=
ENST00000637329.1:c.634+456C=
ENST00000637450.1:c.*319+456C= ENSP00000490204.1:n.*319+456C=
ENST00000637494.1:c.377+456C= ENSP00000490057.1:n.377+456C=
ENST00000637667.1:c.566+456C= ENSP00000489843.1:n.566+456C=
ENST00000637823.1:c.490+456C=
ENST00000637888.1:c.198+9355C= ENSP00000490546.1:n.198+9355C=
ENST00000638076.1:c.*268+456C= ENSP00000490373.1:n.*268+456C=
ENST00000638144.1:n.308+456C=
ENST00000646164.1:c.38+9355C=
ENST00000249806.9:c.665+456C= ENSP00000249806.5:n.665+456C=
ENST00000538696.5:c.761+456C= ENSP00000445770.1:n.761+456C=
ENST00000562767.1:c.84-11553C= ENSP00000456336.1:n.84-11553C=
ENST00000564752.1:c.*49+456C= ENSP00000457822.1:n.*49+456C=
ENST00000565471.5:c.206+456C= ENSP00000457384.1:n.206+456C=
ENST00000566347.5:c.476+456C= ENSP00000457783.1:n.476+456C=
ENST00000567060.5:c.*63+456C= ENSP00000454818.1:n.*63+456C=
NM_017882.2:c.665+456C= NP_060352.1:n.665+456C=
XR_931861.1:n.887+456C=
NM_017882.3:c.665+456C= MANE Select NP_060352.1:n.665+456C=