Canonical Allele Identifier: CA2184878259

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208363A= , CM000677.2:g.68208363A=	GRCh38
NC_000015.9:g.68500701A= , CM000677.1:g.68500701A=	GRCh37
NC_000015.8:g.66287755A=	NCBI36
NG_008764.2:g.53849T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.713T= MANE Select	ENSP00000249806.5:p.Phe238=
ENST00000562767.2:c.84-10735T=	ENSP00000456336.1:n.84-10735T=
ENST00000563917.2:n.555T=
ENST00000565471.6:c.254T=	ENSP00000457384.1:p.Phe85=
ENST00000635747.1:c.*616T=	ENSP00000490627.1:n.*616T=
ENST00000636212.1:c.*383T=	ENSP00000489851.1:n.*383T=
ENST00000636674.1:n.1815T=
ENST00000636964.1:n.2241T=
ENST00000637054.1:c.198+10173T=	ENSP00000490807.1:n.198+10173T=
ENST00000637329.1:c.682T=
ENST00000637450.1:c.*367T=	ENSP00000490204.1:n.*367T=
ENST00000637494.1:c.425T=	ENSP00000490057.1:p.Phe142=
ENST00000637667.1:c.614T=	ENSP00000489843.1:p.Phe205=
ENST00000637823.1:c.538T=
ENST00000637888.1:c.198+10173T=	ENSP00000490546.1:n.198+10173T=
ENST00000638076.1:c.*316T=	ENSP00000490373.1:n.*316T=
ENST00000638144.1:n.356T=
ENST00000646164.1:c.39-8682T=
ENST00000249806.9:c.713T=	ENSP00000249806.5:p.Phe238=
ENST00000538696.5:c.809T=	ENSP00000445770.1:p.Phe270=
ENST00000562767.1:c.84-10735T=	ENSP00000456336.1:n.84-10735T=
ENST00000564752.1:c.*97T=	ENSP00000457822.1:n.*97T=
ENST00000565471.5:c.254T=	ENSP00000457384.1:p.Phe85=
ENST00000566347.5:c.524T=	ENSP00000457783.1:p.Phe175=
ENST00000567060.5:c.*111T=	ENSP00000454818.1:n.*111T=
NM_017882.2:c.713T=	NP_060352.1:p.Phe238=
NM_017882.3:c.713T= MANE Select	NP_060352.1:p.Phe238=