Canonical Allele Identifier: CA2184878331

Gene: CLN6

Linked Data

• dbSNP Id: rs2093194260

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208397_68208398insTTGCTT , CM000677.2:g.68208397_68208398insTTGCTT	GRCh38
NC_000015.9:g.68500735_68500736insTTGCTT , CM000677.1:g.68500735_68500736insTTGCTT	GRCh37
NC_000015.8:g.66287789_66287790insTTGCTT	NCBI36
NG_008764.2:g.53814_53815insAAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.678_679insAAGCAA MANE Select	ENSP00000249806.5:p.Thr226_Glu227insLysGln
ENST00000562767.2:c.84-10770_84-10769insAAGCAA	ENSP00000456336.1:n.84-10770_84-10769insAAGCAA
ENST00000563917.2:n.520_521insAAGCAA
ENST00000565471.6:c.219_220insAAGCAA	ENSP00000457384.1:p.Thr73_Glu74insLysGln
ENST00000635747.1:c.*581_*582insAAGCAA	ENSP00000490627.1:n.*581_*582insAAGCAA
ENST00000636212.1:c.*348_*349insAAGCAA	ENSP00000489851.1:n.*348_*349insAAGCAA
ENST00000636674.1:n.1780_1781insAAGCAA
ENST00000636964.1:n.2206_2207insAAGCAA
ENST00000637054.1:c.198+10138_198+10139insAAGCAA	ENSP00000490807.1:n.198+10138_198+10139insAAGCAA
ENST00000637329.1:c.647_648insAAGCAA
ENST00000637450.1:c.*332_*333insAAGCAA	ENSP00000490204.1:n.*332_*333insAAGCAA
ENST00000637494.1:c.390_391insAAGCAA	ENSP00000490057.1:p.Thr130_Glu131insLysGln
ENST00000637667.1:c.579_580insAAGCAA	ENSP00000489843.1:p.Thr193_Glu194insLysGln
ENST00000637823.1:c.503_504insAAGCAA
ENST00000637888.1:c.198+10138_198+10139insAAGCAA	ENSP00000490546.1:n.198+10138_198+10139insAAGCAA
ENST00000638076.1:c.*281_*282insAAGCAA	ENSP00000490373.1:n.*281_*282insAAGCAA
ENST00000638144.1:n.321_322insAAGCAA
ENST00000646164.1:c.39-8717_39-8716insAAGCAA
ENST00000249806.9:c.678_679insAAGCAA	ENSP00000249806.5:p.Thr226_Glu227insLysGln
ENST00000538696.5:c.774_775insAAGCAA	ENSP00000445770.1:p.Thr258_Glu259insLysGln
ENST00000562767.1:c.84-10770_84-10769insAAGCAA	ENSP00000456336.1:n.84-10770_84-10769insAAGCAA
ENST00000564752.1:c.*62_*63insAAGCAA	ENSP00000457822.1:n.*62_*63insAAGCAA
ENST00000565471.5:c.219_220insAAGCAA	ENSP00000457384.1:p.Thr73_Glu74insLysGln
ENST00000566347.5:c.489_490insAAGCAA	ENSP00000457783.1:p.Thr163_Glu164insLysGln
ENST00000567060.5:c.*76_*77insAAGCAA	ENSP00000454818.1:n.*76_*77insAAGCAA
NM_017882.2:c.678_679insAAGCAA	NP_060352.1:p.Thr226_Glu227insLysGln
XR_931861.1:n.900_901insAAGCAA
NM_017882.3:c.678_679insAAGCAA MANE Select	NP_060352.1:p.Thr226_Glu227insLysGln