Canonical Allele Identifier: CA2184878266

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208364A= , CM000677.2:g.68208364A=	GRCh38
NC_000015.9:g.68500702A= , CM000677.1:g.68500702A=	GRCh37
NC_000015.8:g.66287756A=	NCBI36
NG_008764.2:g.53848T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.712T= MANE Select	ENSP00000249806.5:p.Phe238=
ENST00000562767.2:c.84-10736T=	ENSP00000456336.1:n.84-10736T=
ENST00000563917.2:n.554T=
ENST00000565471.6:c.253T=	ENSP00000457384.1:p.Phe85=
ENST00000635747.1:c.*615T=	ENSP00000490627.1:n.*615T=
ENST00000636212.1:c.*382T=	ENSP00000489851.1:n.*382T=
ENST00000636674.1:n.1814T=
ENST00000636964.1:n.2240T=
ENST00000637054.1:c.198+10172T=	ENSP00000490807.1:n.198+10172T=
ENST00000637329.1:c.681T=
ENST00000637450.1:c.*366T=	ENSP00000490204.1:n.*366T=
ENST00000637494.1:c.424T=	ENSP00000490057.1:p.Phe142=
ENST00000637667.1:c.613T=	ENSP00000489843.1:p.Phe205=
ENST00000637823.1:c.537T=
ENST00000637888.1:c.198+10172T=	ENSP00000490546.1:n.198+10172T=
ENST00000638076.1:c.*315T=	ENSP00000490373.1:n.*315T=
ENST00000638144.1:n.355T=
ENST00000646164.1:c.39-8683T=
ENST00000249806.9:c.712T=	ENSP00000249806.5:p.Phe238=
ENST00000538696.5:c.808T=	ENSP00000445770.1:p.Phe270=
ENST00000562767.1:c.84-10736T=	ENSP00000456336.1:n.84-10736T=
ENST00000564752.1:c.*96T=	ENSP00000457822.1:n.*96T=
ENST00000565471.5:c.253T=	ENSP00000457384.1:p.Phe85=
ENST00000566347.5:c.523T=	ENSP00000457783.1:p.Phe175=
ENST00000567060.5:c.*110T=	ENSP00000454818.1:n.*110T=
NM_017882.2:c.712T=	NP_060352.1:p.Phe238=
NM_017882.3:c.712T= MANE Select	NP_060352.1:p.Phe238=