Canonical Allele Identifier: CA2184877935

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208229C= , CM000677.2:g.68208229C=	GRCh38
NC_000015.9:g.68500567C= , CM000677.1:g.68500567C=	GRCh37
NC_000015.8:g.66287621C=	NCBI36
NG_008764.2:g.53983G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.847G= MANE Select	ENSP00000249806.5:p.Asp283=
ENST00000562767.2:c.84-10601G=	ENSP00000456336.1:n.84-10601G=
ENST00000565471.6:c.388G=	ENSP00000457384.1:p.Asp130=
ENST00000635747.1:c.*750G=	ENSP00000490627.1:n.*750G=
ENST00000636212.1:c.*517G=	ENSP00000489851.1:n.*517G=
ENST00000636674.1:n.1949G=
ENST00000636964.1:n.2375G=
ENST00000637054.1:c.198+10307G=	ENSP00000490807.1:n.198+10307G=
ENST00000637329.1:c.816G=
ENST00000637450.1:c.*501G=	ENSP00000490204.1:n.*501G=
ENST00000637494.1:c.559G=	ENSP00000490057.1:p.Asp187=
ENST00000637667.1:c.748G=	ENSP00000489843.1:p.Asp250=
ENST00000637823.1:c.672G=
ENST00000637888.1:c.198+10307G=	ENSP00000490546.1:n.198+10307G=
ENST00000638076.1:c.*450G=	ENSP00000490373.1:n.*450G=
ENST00000638144.1:n.490G=
ENST00000646164.1:c.39-8548G=
ENST00000249806.9:c.847G=	ENSP00000249806.5:p.Asp283=
ENST00000538696.5:c.943G=	ENSP00000445770.1:p.Asp315=
ENST00000562767.1:c.84-10601G=	ENSP00000456336.1:n.84-10601G=
ENST00000565471.5:c.388G=	ENSP00000457384.1:p.Asp130=
ENST00000566347.5:c.658G=	ENSP00000457783.1:p.Asp220=
ENST00000567060.5:c.*245G=	ENSP00000454818.1:n.*245G=
NM_017882.2:c.847G=	NP_060352.1:p.Asp283=
NM_017882.3:c.847G= MANE Select	NP_060352.1:p.Asp283=