Canonical Allele Identifier: CA912992585
Gene: CLN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68208305_68208310del , CM000677.2:g.68208305_68208310del GRCh38
NC_000015.9:g.68500643_68500648del , CM000677.1:g.68500643_68500648del GRCh37
NC_000015.8:g.66287697_66287702del NCBI36
NG_008764.2:g.53902_53907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.766_771del MANE Select ENSP00000249806.5:p.Asp256_Ser257del
ENST00000562767.2:c.84-10682_84-10677del ENSP00000456336.1:n.84-10682_84-10677del
ENST00000565471.6:c.307_312del ENSP00000457384.1:p.Asp103_Ser104del
ENST00000635747.1:c.*669_*674del ENSP00000490627.1:n.*669_*674del
ENST00000636212.1:c.*436_*441del ENSP00000489851.1:n.*436_*441del
ENST00000636674.1:n.1868_1873del
ENST00000636964.1:n.2294_2299del
ENST00000637054.1:c.198+10226_198+10231del ENSP00000490807.1:n.198+10226_198+10231del
ENST00000637329.1:c.735_740del
ENST00000637450.1:c.*420_*425del ENSP00000490204.1:n.*420_*425del
ENST00000637494.1:c.478_483del ENSP00000490057.1:p.Asp160_Ser161del
ENST00000637667.1:c.667_672del ENSP00000489843.1:p.Asp223_Ser224del
ENST00000637823.1:c.591_596del
ENST00000637888.1:c.198+10226_198+10231del ENSP00000490546.1:n.198+10226_198+10231del
ENST00000638076.1:c.*369_*374del ENSP00000490373.1:n.*369_*374del
ENST00000638144.1:n.409_414del
ENST00000646164.1:c.39-8629_39-8624del
ENST00000249806.9:c.766_771del ENSP00000249806.5:p.Asp256_Ser257del
ENST00000538696.5:c.862_867del ENSP00000445770.1:p.Asp288_Ser289del
ENST00000562767.1:c.84-10682_84-10677del ENSP00000456336.1:n.84-10682_84-10677del
ENST00000565471.5:c.307_312del ENSP00000457384.1:p.Asp103_Ser104del
ENST00000566347.5:c.577_582del ENSP00000457783.1:p.Asp193_Ser194del
ENST00000567060.5:c.*164_*169del ENSP00000454818.1:n.*164_*169del
NM_017882.2:c.766_771del NP_060352.1:p.Asp256_Ser257del
NM_017882.3:c.766_771del MANE Select NP_060352.1:p.Asp256_Ser257del