Canonical Allele Identifier: CA2184878095

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208305_68208310delinsGCTGTC , CM000677.2:g.68208305_68208310delinsGCTGTC	GRCh38
NC_000015.9:g.68500643_68500648delinsGCTGTC , CM000677.1:g.68500643_68500648delinsGCTGTC	GRCh37
NC_000015.8:g.66287697_66287702delinsGCTGTC	NCBI36
NG_008764.2:g.53902_53907delinsGACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.766_771delinsGACAGC MANE Select	ENSP00000249806.5:p.Asp256=
ENST00000562767.2:c.84-10682_84-10677delinsGACAGC	ENSP00000456336.1:n.84-10682_84-10677delinsGACAGC
ENST00000565471.6:c.307_312delinsGACAGC	ENSP00000457384.1:p.Asp103=
ENST00000635747.1:c.*669_*674delinsGACAGC	ENSP00000490627.1:n.*669_*674delinsGACAGC
ENST00000636212.1:c.*436_*441delinsGACAGC	ENSP00000489851.1:n.*436_*441delinsGACAGC
ENST00000636674.1:n.1868_1873delinsGACAGC
ENST00000636964.1:n.2294_2299delinsGACAGC
ENST00000637054.1:c.198+10226_198+10231delinsGACAGC	ENSP00000490807.1:n.198+10226_198+10231delinsGACAGC
ENST00000637329.1:c.735_740delinsGACAGC
ENST00000637450.1:c.*420_*425delinsGACAGC	ENSP00000490204.1:n.*420_*425delinsGACAGC
ENST00000637494.1:c.478_483delinsGACAGC	ENSP00000490057.1:p.Asp160=
ENST00000637667.1:c.667_672delinsGACAGC	ENSP00000489843.1:p.Asp223=
ENST00000637823.1:c.591_596delinsGACAGC
ENST00000637888.1:c.198+10226_198+10231delinsGACAGC	ENSP00000490546.1:n.198+10226_198+10231delinsGACAGC
ENST00000638076.1:c.*369_*374delinsGACAGC	ENSP00000490373.1:n.*369_*374delinsGACAGC
ENST00000638144.1:n.409_414delinsGACAGC
ENST00000646164.1:c.39-8629_39-8624delinsGACAGC
ENST00000249806.9:c.766_771delinsGACAGC	ENSP00000249806.5:p.Asp256=
ENST00000538696.5:c.862_867delinsGACAGC	ENSP00000445770.1:p.Asp288=
ENST00000562767.1:c.84-10682_84-10677delinsGACAGC	ENSP00000456336.1:n.84-10682_84-10677delinsGACAGC
ENST00000565471.5:c.307_312delinsGACAGC	ENSP00000457384.1:p.Asp103=
ENST00000566347.5:c.577_582delinsGACAGC	ENSP00000457783.1:p.Asp193=
ENST00000567060.5:c.*164_*169delinsGACAGC	ENSP00000454818.1:n.*164_*169delinsGACAGC
NM_017882.2:c.766_771delinsGACAGC	NP_060352.1:p.Asp256=
NM_017882.3:c.766_771delinsGACAGC MANE Select	NP_060352.1:p.Asp256=