Canonical Allele Identifier: CA2184878123

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208317G= , CM000677.2:g.68208317G=	GRCh38
NC_000015.9:g.68500655G= , CM000677.1:g.68500655G=	GRCh37
NC_000015.8:g.66287709G=	NCBI36
NG_008764.2:g.53895C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.759C= MANE Select	ENSP00000249806.5:p.Leu253=
ENST00000562767.2:c.84-10689C=	ENSP00000456336.1:n.84-10689C=
ENST00000565471.6:c.300C=	ENSP00000457384.1:p.Leu100=
ENST00000635747.1:c.*662C=	ENSP00000490627.1:n.*662C=
ENST00000636212.1:c.*429C=	ENSP00000489851.1:n.*429C=
ENST00000636674.1:n.1861C=
ENST00000636964.1:n.2287C=
ENST00000637054.1:c.198+10219C=	ENSP00000490807.1:n.198+10219C=
ENST00000637329.1:c.728C=
ENST00000637450.1:c.*413C=	ENSP00000490204.1:n.*413C=
ENST00000637494.1:c.471C=	ENSP00000490057.1:p.Leu157=
ENST00000637667.1:c.660C=	ENSP00000489843.1:p.Leu220=
ENST00000637823.1:c.584C=
ENST00000637888.1:c.198+10219C=	ENSP00000490546.1:n.198+10219C=
ENST00000638076.1:c.*362C=	ENSP00000490373.1:n.*362C=
ENST00000638144.1:n.402C=
ENST00000646164.1:c.39-8636C=
ENST00000249806.9:c.759C=	ENSP00000249806.5:p.Leu253=
ENST00000538696.5:c.855C=	ENSP00000445770.1:p.Leu285=
ENST00000562767.1:c.84-10689C=	ENSP00000456336.1:n.84-10689C=
ENST00000565471.5:c.300C=	ENSP00000457384.1:p.Leu100=
ENST00000566347.5:c.570C=	ENSP00000457783.1:p.Leu190=
ENST00000567060.5:c.*157C=	ENSP00000454818.1:n.*157C=
NM_017882.2:c.759C=	NP_060352.1:p.Leu253=
NM_017882.3:c.759C= MANE Select	NP_060352.1:p.Leu253=