Canonical Allele Identifier: CA2804592504

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218708_68218709insACAA , CM000677.2:g.68218708_68218709insACAA	GRCh38
NC_000015.9:g.68511046_68511047insACAA , CM000677.1:g.68511046_68511047insACAA	GRCh37
NC_000015.8:g.66298100_66298101insACAA	NCBI36
NG_008764.2:g.43503_43504insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.84-59_84-58insTTGT MANE Select	ENSP00000249806.5:n.84-59_84-58insTTGT
ENST00000562767.2:c.83+10793_83+10794insTTGT	ENSP00000456336.1:n.83+10793_83+10794insTTGT
ENST00000563917.2:n.41-4321_41-4320insTTGT
ENST00000565471.6:c.84-8950_84-8949insTTGT	ENSP00000457384.1:n.84-8950_84-8949insTTGT
ENST00000635747.1:c.173-59_173-58insTTGT	ENSP00000490627.1:n.173-59_173-58insTTGT
ENST00000636020.1:n.216-59_216-58insTTGT
ENST00000636212.1:c.84-59_84-58insTTGT	ENSP00000489851.1:n.84-59_84-58insTTGT
ENST00000636314.1:c.84-4321_84-4320insTTGT	ENSP00000490295.1:n.84-4321_84-4320insTTGT
ENST00000636876.1:c.*104-59_*104-58insTTGT	ENSP00000489950.1:n.*104-59_*104-58insTTGT
ENST00000637054.1:c.84-59_84-58insTTGT	ENSP00000490807.1:n.84-59_84-58insTTGT
ENST00000637223.1:c.173-59_173-58insTTGT	ENSP00000490010.1:n.173-59_173-58insTTGT
ENST00000637450.1:c.84-4321_84-4320insTTGT	ENSP00000490204.1:n.84-4321_84-4320insTTGT
ENST00000637494.1:c.84-59_84-58insTTGT	ENSP00000490057.1:n.84-59_84-58insTTGT
ENST00000637667.1:c.84-59_84-58insTTGT	ENSP00000489843.1:n.84-59_84-58insTTGT
ENST00000637823.1:c.10-59_10-58insTTGT
ENST00000637888.1:c.84-59_84-58insTTGT	ENSP00000490546.1:n.84-59_84-58insTTGT
ENST00000638076.1:c.84-59_84-58insTTGT	ENSP00000490373.1:n.84-59_84-58insTTGT
ENST00000638144.1:n.31-4321_31-4320insTTGT
ENST00000249806.9:c.84-59_84-58insTTGT	ENSP00000249806.5:n.84-59_84-58insTTGT
ENST00000538696.5:c.180-59_180-58insTTGT	ENSP00000445770.1:n.180-59_180-58insTTGT
ENST00000562767.1:c.83+10793_83+10794insTTGT	ENSP00000456336.1:n.83+10793_83+10794insTTGT
ENST00000564752.1:c.84-59_84-58insTTGT	ENSP00000457822.1:n.84-59_84-58insTTGT
ENST00000564846.1:n.516-59_516-58insTTGT
ENST00000565471.5:c.84-8950_84-8949insTTGT	ENSP00000457384.1:n.84-8950_84-8949insTTGT
ENST00000566347.5:c.84-59_84-58insTTGT	ENSP00000457783.1:n.84-59_84-58insTTGT
ENST00000567060.5:c.84-59_84-58insTTGT	ENSP00000454818.1:n.84-59_84-58insTTGT
ENST00000569336.1:n.170-59_170-58insTTGT
NM_017882.2:c.84-59_84-58insTTGT	NP_060352.1:n.84-59_84-58insTTGT
XR_931861.1:n.187-59_187-58insTTGT
NM_017882.3:c.84-59_84-58insTTGT MANE Select	NP_060352.1:n.84-59_84-58insTTGT