Canonical Allele Identifier: CA658825090

Gene: CLN6

Linked Data

• ClinVar Variation Id: 557577
• ClinVar RCV Id: RCV000673735
• dbSNP Id: rs1555438234
• MyVariant Identifiers: chr15:g.68208306_68208310del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208307_68208311del , CM000677.2:g.68208307_68208311del	GRCh38
NC_000015.9:g.68500645_68500649del , CM000677.1:g.68500645_68500649del	GRCh37
NC_000015.8:g.66287699_66287703del	NCBI36
NG_008764.2:g.53902_53906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.766_770del MANE Select	ENSP00000249806.5:p.Asp256GlnfsTer26
ENST00000562767.2:c.84-10682_84-10678del	ENSP00000456336.1:n.84-10682_84-10678del
ENST00000565471.6:c.307_311del	ENSP00000457384.1:p.Asp103GlnfsTer26
ENST00000635747.1:c.*669_*673del	ENSP00000490627.1:n.*669_*673del
ENST00000636212.1:c.*436_*440del	ENSP00000489851.1:n.*436_*440del
ENST00000636674.1:n.1868_1872del
ENST00000636964.1:n.2294_2298del
ENST00000637054.1:c.198+10226_198+10230del	ENSP00000490807.1:n.198+10226_198+10230del
ENST00000637329.1:c.735_739del
ENST00000637450.1:c.*420_*424del	ENSP00000490204.1:n.*420_*424del
ENST00000637494.1:c.478_482del	ENSP00000490057.1:p.Asp160GlnfsTer26
ENST00000637667.1:c.667_671del	ENSP00000489843.1:p.Asp223GlnfsTer26
ENST00000637823.1:c.591_595del
ENST00000637888.1:c.198+10226_198+10230del	ENSP00000490546.1:n.198+10226_198+10230del
ENST00000638076.1:c.*369_*373del	ENSP00000490373.1:n.*369_*373del
ENST00000638144.1:n.409_413del
ENST00000646164.1:c.39-8629_39-8625del
ENST00000249806.9:c.766_770del	ENSP00000249806.5:p.Asp256GlnfsTer26
ENST00000538696.5:c.862_866del	ENSP00000445770.1:p.Asp288GlnfsTer26
ENST00000562767.1:c.84-10682_84-10678del	ENSP00000456336.1:n.84-10682_84-10678del
ENST00000565471.5:c.307_311del	ENSP00000457384.1:p.Asp103GlnfsTer26
ENST00000566347.5:c.577_581del	ENSP00000457783.1:p.Asp193GlnfsTer26
ENST00000567060.5:c.*164_*168del	ENSP00000454818.1:n.*164_*168del
NM_017882.2:c.766_770del	NP_060352.1:p.Asp256GlnfsTer26
NM_017882.3:c.766_770del MANE Select	NP_060352.1:p.Asp256GlnfsTer26