Canonical Allele Identifier: CA2184878219

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208353C= , CM000677.2:g.68208353C=	GRCh38
NC_000015.9:g.68500691C= , CM000677.1:g.68500691C=	GRCh37
NC_000015.8:g.66287745C=	NCBI36
NG_008764.2:g.53859G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.723G= MANE Select	ENSP00000249806.5:p.Met241=
ENST00000562767.2:c.84-10725G=	ENSP00000456336.1:n.84-10725G=
ENST00000565471.6:c.264G=	ENSP00000457384.1:p.Met88=
ENST00000635747.1:c.*626G=	ENSP00000490627.1:n.*626G=
ENST00000636212.1:c.*393G=	ENSP00000489851.1:n.*393G=
ENST00000636674.1:n.1825G=
ENST00000636964.1:n.2251G=
ENST00000637054.1:c.198+10183G=	ENSP00000490807.1:n.198+10183G=
ENST00000637329.1:c.692G=
ENST00000637450.1:c.*377G=	ENSP00000490204.1:n.*377G=
ENST00000637494.1:c.435G=	ENSP00000490057.1:p.Met145=
ENST00000637667.1:c.624G=	ENSP00000489843.1:p.Met208=
ENST00000637823.1:c.548G=
ENST00000637888.1:c.198+10183G=	ENSP00000490546.1:n.198+10183G=
ENST00000638076.1:c.*326G=	ENSP00000490373.1:n.*326G=
ENST00000638144.1:n.366G=
ENST00000646164.1:c.39-8672G=
ENST00000249806.9:c.723G=	ENSP00000249806.5:p.Met241=
ENST00000538696.5:c.819G=	ENSP00000445770.1:p.Met273=
ENST00000562767.1:c.84-10725G=	ENSP00000456336.1:n.84-10725G=
ENST00000564752.1:c.*107G=	ENSP00000457822.1:n.*107G=
ENST00000565471.5:c.264G=	ENSP00000457384.1:p.Met88=
ENST00000566347.5:c.534G=	ENSP00000457783.1:p.Met178=
ENST00000567060.5:c.*121G=	ENSP00000454818.1:n.*121G=
NM_017882.2:c.723G=	NP_060352.1:p.Met241=
NM_017882.3:c.723G= MANE Select	NP_060352.1:p.Met241=