Canonical Allele Identifier: CA2184875041

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214290C= , CM000677.2:g.68214290C=	GRCh38
NC_000015.9:g.68506628C= , CM000677.1:g.68506628C=	GRCh37
NC_000015.8:g.66293682C=	NCBI36
NG_008764.2:g.47922G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.297G= MANE Select	ENSP00000249806.5:p.Lys99=
ENST00000562767.2:c.83+15212G=	ENSP00000456336.1:n.83+15212G=
ENST00000563917.2:n.139G=
ENST00000565471.6:c.84-4531G=	ENSP00000457384.1:n.84-4531G=
ENST00000635747.1:c.*200G=	ENSP00000490627.1:n.*200G=
ENST00000635754.1:n.1319G=
ENST00000636020.1:n.429G=
ENST00000636212.1:c.297G=	ENSP00000489851.1:p.Lys99=
ENST00000636314.1:c.182G=	ENSP00000490295.1:p.Arg61=
ENST00000637054.1:c.198+4246G=	ENSP00000490807.1:n.198+4246G=
ENST00000637223.1:c.*200G=	ENSP00000490010.1:n.*200G=
ENST00000637329.1:c.208G=
ENST00000637450.1:c.182G=	ENSP00000490204.1:p.Ser61=
ENST00000637494.1:c.199-2972G=	ENSP00000490057.1:n.199-2972G=
ENST00000637667.1:c.199-2427G=	ENSP00000489843.1:n.199-2427G=
ENST00000637823.1:c.223G=
ENST00000637888.1:c.198+4246G=	ENSP00000490546.1:n.198+4246G=
ENST00000638076.1:c.297G=	ENSP00000490373.1:p.Lys99=
ENST00000638144.1:n.129G=
ENST00000646164.1:c.38+4246G=
ENST00000249806.9:c.297G=	ENSP00000249806.5:p.Lys99=
ENST00000538696.5:c.393G=	ENSP00000445770.1:p.Lys131=
ENST00000562767.1:c.83+15212G=	ENSP00000456336.1:n.83+15212G=
ENST00000563917.1:n.78G=
ENST00000564752.1:c.297G=	ENSP00000457822.1:p.Lys99=
ENST00000564846.1:n.729G=
ENST00000565471.5:c.84-4531G=	ENSP00000457384.1:n.84-4531G=
ENST00000566347.5:c.297G=	ENSP00000457783.1:p.Lys99=
ENST00000567060.5:c.297G=	ENSP00000454818.1:p.Lys99=
NM_017882.2:c.297G=	NP_060352.1:p.Lys99=
XR_931861.1:n.400G=
NM_017882.3:c.297G= MANE Select	NP_060352.1:p.Lys99=