Canonical Allele Identifier: CA2184878223

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208354A= , CM000677.2:g.68208354A=	GRCh38
NC_000015.9:g.68500692A= , CM000677.1:g.68500692A=	GRCh37
NC_000015.8:g.66287746A=	NCBI36
NG_008764.2:g.53858T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.722T= MANE Select	ENSP00000249806.5:p.Met241=
ENST00000562767.2:c.84-10726T=	ENSP00000456336.1:n.84-10726T=
ENST00000565471.6:c.263T=	ENSP00000457384.1:p.Met88=
ENST00000635747.1:c.*625T=	ENSP00000490627.1:n.*625T=
ENST00000636212.1:c.*392T=	ENSP00000489851.1:n.*392T=
ENST00000636674.1:n.1824T=
ENST00000636964.1:n.2250T=
ENST00000637054.1:c.198+10182T=	ENSP00000490807.1:n.198+10182T=
ENST00000637329.1:c.691T=
ENST00000637450.1:c.*376T=	ENSP00000490204.1:n.*376T=
ENST00000637494.1:c.434T=	ENSP00000490057.1:p.Met145=
ENST00000637667.1:c.623T=	ENSP00000489843.1:p.Met208=
ENST00000637823.1:c.547T=
ENST00000637888.1:c.198+10182T=	ENSP00000490546.1:n.198+10182T=
ENST00000638076.1:c.*325T=	ENSP00000490373.1:n.*325T=
ENST00000638144.1:n.365T=
ENST00000646164.1:c.39-8673T=
ENST00000249806.9:c.722T=	ENSP00000249806.5:p.Met241=
ENST00000538696.5:c.818T=	ENSP00000445770.1:p.Met273=
ENST00000562767.1:c.84-10726T=	ENSP00000456336.1:n.84-10726T=
ENST00000564752.1:c.*106T=	ENSP00000457822.1:n.*106T=
ENST00000565471.5:c.263T=	ENSP00000457384.1:p.Met88=
ENST00000566347.5:c.533T=	ENSP00000457783.1:p.Met178=
ENST00000567060.5:c.*120T=	ENSP00000454818.1:n.*120T=
NM_017882.2:c.722T=	NP_060352.1:p.Met241=
NM_017882.3:c.722T= MANE Select	NP_060352.1:p.Met241=