Canonical Allele Identifier: CA2184879290
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209481A= , CM000677.2:g.68209481A= GRCh38
NC_000015.9:g.68501819A= , CM000677.1:g.68501819A= GRCh37
NC_000015.8:g.66288873A= NCBI36
NG_008764.2:g.52731T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.665+156T= MANE Select ENSP00000249806.5:n.665+156T=
ENST00000562767.2:c.84-11853T= ENSP00000456336.1:n.84-11853T=
ENST00000563917.2:n.507+156T=
ENST00000565471.6:c.206+156T= ENSP00000457384.1:n.206+156T=
ENST00000635747.1:c.*568+156T= ENSP00000490627.1:n.*568+156T=
ENST00000636212.1:c.*335+156T= ENSP00000489851.1:n.*335+156T=
ENST00000636674.1:n.1767+156T=
ENST00000636964.1:n.2193+156T=
ENST00000637054.1:c.198+9055T= ENSP00000490807.1:n.198+9055T=
ENST00000637329.1:c.634+156T=
ENST00000637450.1:c.*319+156T= ENSP00000490204.1:n.*319+156T=
ENST00000637494.1:c.377+156T= ENSP00000490057.1:n.377+156T=
ENST00000637667.1:c.566+156T= ENSP00000489843.1:n.566+156T=
ENST00000637823.1:c.490+156T=
ENST00000637888.1:c.198+9055T= ENSP00000490546.1:n.198+9055T=
ENST00000638076.1:c.*268+156T= ENSP00000490373.1:n.*268+156T=
ENST00000638144.1:n.308+156T=
ENST00000646164.1:c.38+9055T=
ENST00000249806.9:c.665+156T= ENSP00000249806.5:n.665+156T=
ENST00000538696.5:c.761+156T= ENSP00000445770.1:n.761+156T=
ENST00000562767.1:c.84-11853T= ENSP00000456336.1:n.84-11853T=
ENST00000564752.1:c.*49+156T= ENSP00000457822.1:n.*49+156T=
ENST00000565471.5:c.206+156T= ENSP00000457384.1:n.206+156T=
ENST00000566347.5:c.476+156T= ENSP00000457783.1:n.476+156T=
ENST00000567060.5:c.*63+156T= ENSP00000454818.1:n.*63+156T=
NM_017882.2:c.665+156T= NP_060352.1:n.665+156T=
XR_931861.1:n.887+156T=
NM_017882.3:c.665+156T= MANE Select NP_060352.1:n.665+156T=