Canonical Allele Identifier: CA2573151114

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1495677
• ClinVar RCV Id: RCV001991507
• dbSNP Id: rs2141135839

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208154_68208155delinsGA , CM000677.2:g.68208154_68208155delinsGA	GRCh38
NC_000015.9:g.68500492_68500493delinsGA , CM000677.1:g.68500492_68500493delinsGA	GRCh37
NC_000015.8:g.66287546_66287547delinsGA	NCBI36
NG_008764.2:g.54057_54058delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.921_922delinsTC MANE Select	ENSP00000249806.5:p.Ser308Arg
ENST00000562767.2:c.84-10527_84-10526delinsTC	ENSP00000456336.1:n.84-10527_84-10526deli...
ENST00000565471.6:c.462_463delinsTC	ENSP00000457384.1:p.Ser155Arg
ENST00000635747.1:c.*824_*825delinsTC	ENSP00000490627.1:n.*824_*825delinsTC
ENST00000636212.1:c.*591_*592delinsTC	ENSP00000489851.1:n.*591_*592delinsTC
ENST00000636964.1:n.2449_2450delinsTC
ENST00000637054.1:c.198+10381_198+10382delinsTC	ENSP00000490807.1:n.198+10381_198+10382de...
ENST00000637329.1:c.890_891delinsTC
ENST00000637494.1:c.633_634delinsTC	ENSP00000490057.1:p.Ser212Arg
ENST00000637888.1:c.198+10381_198+10382delinsTC	ENSP00000490546.1:n.198+10381_198+10382de...
ENST00000638076.1:c.*524_*525delinsTC	ENSP00000490373.1:n.*524_*525delinsTC
ENST00000638144.1:n.564_565delinsTC
ENST00000646164.1:c.39-8474_39-8473delinsTC
ENST00000249806.9:c.921_922delinsTC	ENSP00000249806.5:p.Ser308Arg
ENST00000538696.5:c.1017_1018delinsTC	ENSP00000445770.1:p.Ser340Arg
ENST00000562767.1:c.84-10527_84-10526delinsTC	ENSP00000456336.1:n.84-10527_84-10526deli...
ENST00000565471.5:c.462_463delinsTC	ENSP00000457384.1:p.Ser155Arg
ENST00000566347.5:c.732_733delinsTC	ENSP00000457783.1:p.Ser245Arg
ENST00000567060.5:c.*319_*320delinsTC	ENSP00000454818.1:n.*319_*320delinsTC
NM_017882.2:c.921_922delinsTC	NP_060352.1:p.Ser308Arg
NM_017882.3:c.921_922delinsTC MANE Select	NP_060352.1:p.Ser308Arg