Canonical Allele Identifier: CA2184877946

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208238_68208239delinsGC , CM000677.2:g.68208238_68208239delinsGC	GRCh38
NC_000015.9:g.68500576_68500577delinsGC , CM000677.1:g.68500576_68500577delinsGC	GRCh37
NC_000015.8:g.66287630_66287631delinsGC	NCBI36
NG_008764.2:g.53973_53974delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.837_838delinsGC MANE Select	ENSP00000249806.5:p.Trp279=
ENST00000562767.2:c.84-10611_84-10610delinsGC	ENSP00000456336.1:n.84-10611_84-10610delinsGC
ENST00000565471.6:c.378_379delinsGC	ENSP00000457384.1:p.Trp126=
ENST00000635747.1:c.*740_*741delinsGC	ENSP00000490627.1:n.*740_*741delinsGC
ENST00000636212.1:c.*507_*508delinsGC	ENSP00000489851.1:n.*507_*508delinsGC
ENST00000636674.1:n.1939_1940delinsGC
ENST00000636964.1:n.2365_2366delinsGC
ENST00000637054.1:c.198+10297_198+10298delinsGC	ENSP00000490807.1:n.198+10297_198+10298delinsGC
ENST00000637329.1:c.806_807delinsGC
ENST00000637450.1:c.*491_*492delinsGC	ENSP00000490204.1:n.*491_*492delinsGC
ENST00000637494.1:c.549_550delinsGC	ENSP00000490057.1:p.Trp183=
ENST00000637667.1:c.738_739delinsGC	ENSP00000489843.1:p.Trp246=
ENST00000637823.1:c.662_663delinsGC
ENST00000637888.1:c.198+10297_198+10298delinsGC	ENSP00000490546.1:n.198+10297_198+10298delinsGC
ENST00000638076.1:c.*440_*441delinsGC	ENSP00000490373.1:n.*440_*441delinsGC
ENST00000638144.1:n.480_481delinsGC
ENST00000646164.1:c.39-8558_39-8557delinsGC
ENST00000249806.9:c.837_838delinsGC	ENSP00000249806.5:p.Trp279=
ENST00000538696.5:c.933_934delinsGC	ENSP00000445770.1:p.Trp311=
ENST00000562767.1:c.84-10611_84-10610delinsGC	ENSP00000456336.1:n.84-10611_84-10610delinsGC
ENST00000565471.5:c.378_379delinsGC	ENSP00000457384.1:p.Trp126=
ENST00000566347.5:c.648_649delinsGC	ENSP00000457783.1:p.Trp216=
ENST00000567060.5:c.*235_*236delinsGC	ENSP00000454818.1:n.*235_*236delinsGC
NM_017882.2:c.837_838delinsGC	NP_060352.1:p.Trp279=
NM_017882.3:c.837_838delinsGC MANE Select	NP_060352.1:p.Trp279=