Canonical Allele Identifier: CA2184877870

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208201C= , CM000677.2:g.68208201C=	GRCh38
NC_000015.9:g.68500539C= , CM000677.1:g.68500539C=	GRCh37
NC_000015.8:g.66287593C=	NCBI36
NG_008764.2:g.54011G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.875G= MANE Select	ENSP00000249806.5:p.Gly292=
ENST00000562767.2:c.84-10573G=	ENSP00000456336.1:n.84-10573G=
ENST00000565471.6:c.416G=	ENSP00000457384.1:p.Gly139=
ENST00000635747.1:c.*778G=	ENSP00000490627.1:n.*778G=
ENST00000636212.1:c.*545G=	ENSP00000489851.1:n.*545G=
ENST00000636674.1:n.1977G=
ENST00000636964.1:n.2403G=
ENST00000637054.1:c.198+10335G=	ENSP00000490807.1:n.198+10335G=
ENST00000637329.1:c.844G=
ENST00000637450.1:c.*529G=	ENSP00000490204.1:n.*529G=
ENST00000637494.1:c.587G=	ENSP00000490057.1:p.Gly196=
ENST00000637823.1:c.700G=
ENST00000637888.1:c.198+10335G=	ENSP00000490546.1:n.198+10335G=
ENST00000638076.1:c.*478G=	ENSP00000490373.1:n.*478G=
ENST00000638144.1:n.518G=
ENST00000646164.1:c.39-8520G=
ENST00000249806.9:c.875G=	ENSP00000249806.5:p.Gly292=
ENST00000538696.5:c.971G=	ENSP00000445770.1:p.Gly324=
ENST00000562767.1:c.84-10573G=	ENSP00000456336.1:n.84-10573G=
ENST00000565471.5:c.416G=	ENSP00000457384.1:p.Gly139=
ENST00000566347.5:c.686G=	ENSP00000457783.1:p.Gly229=
ENST00000567060.5:c.*273G=	ENSP00000454818.1:n.*273G=
NM_017882.2:c.875G=	NP_060352.1:p.Gly292=
NM_017882.3:c.875G= MANE Select	NP_060352.1:p.Gly292=