Canonical Allele Identifier: CA2184878257

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208362G= , CM000677.2:g.68208362G=	GRCh38
NC_000015.9:g.68500700G= , CM000677.1:g.68500700G=	GRCh37
NC_000015.8:g.66287754G=	NCBI36
NG_008764.2:g.53850C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.714C= MANE Select	ENSP00000249806.5:p.Phe238=
ENST00000562767.2:c.84-10734C=	ENSP00000456336.1:n.84-10734C=
ENST00000563917.2:n.556C=
ENST00000565471.6:c.255C=	ENSP00000457384.1:p.Phe85=
ENST00000635747.1:c.*617C=	ENSP00000490627.1:n.*617C=
ENST00000636212.1:c.*384C=	ENSP00000489851.1:n.*384C=
ENST00000636674.1:n.1816C=
ENST00000636964.1:n.2242C=
ENST00000637054.1:c.198+10174C=	ENSP00000490807.1:n.198+10174C=
ENST00000637329.1:c.683C=
ENST00000637450.1:c.*368C=	ENSP00000490204.1:n.*368C=
ENST00000637494.1:c.426C=	ENSP00000490057.1:p.Phe142=
ENST00000637667.1:c.615C=	ENSP00000489843.1:p.Phe205=
ENST00000637823.1:c.539C=
ENST00000637888.1:c.198+10174C=	ENSP00000490546.1:n.198+10174C=
ENST00000638076.1:c.*317C=	ENSP00000490373.1:n.*317C=
ENST00000638144.1:n.357C=
ENST00000646164.1:c.39-8681C=
ENST00000249806.9:c.714C=	ENSP00000249806.5:p.Phe238=
ENST00000538696.5:c.810C=	ENSP00000445770.1:p.Phe270=
ENST00000562767.1:c.84-10734C=	ENSP00000456336.1:n.84-10734C=
ENST00000564752.1:c.*98C=	ENSP00000457822.1:n.*98C=
ENST00000565471.5:c.255C=	ENSP00000457384.1:p.Phe85=
ENST00000566347.5:c.525C=	ENSP00000457783.1:p.Phe175=
ENST00000567060.5:c.*112C=	ENSP00000454818.1:n.*112C=
NM_017882.2:c.714C=	NP_060352.1:p.Phe238=
NM_017882.3:c.714C= MANE Select	NP_060352.1:p.Phe238=