Canonical Allele Identifier: CA2184878092

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208303T= , CM000677.2:g.68208303T=	GRCh38
NC_000015.9:g.68500641T= , CM000677.1:g.68500641T=	GRCh37
NC_000015.8:g.66287695T=	NCBI36
NG_008764.2:g.53909A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.773A= MANE Select	ENSP00000249806.5:p.Asn258=
ENST00000562767.2:c.84-10675A=	ENSP00000456336.1:n.84-10675A=
ENST00000565471.6:c.314A=	ENSP00000457384.1:p.Asn105=
ENST00000635747.1:c.*676A=	ENSP00000490627.1:n.*676A=
ENST00000636212.1:c.*443A=	ENSP00000489851.1:n.*443A=
ENST00000636674.1:n.1875A=
ENST00000636964.1:n.2301A=
ENST00000637054.1:c.198+10233A=	ENSP00000490807.1:n.198+10233A=
ENST00000637329.1:c.742A=
ENST00000637450.1:c.*427A=	ENSP00000490204.1:n.*427A=
ENST00000637494.1:c.485A=	ENSP00000490057.1:p.Asn162=
ENST00000637667.1:c.674A=	ENSP00000489843.1:p.Asn225=
ENST00000637823.1:c.598A=
ENST00000637888.1:c.198+10233A=	ENSP00000490546.1:n.198+10233A=
ENST00000638076.1:c.*376A=	ENSP00000490373.1:n.*376A=
ENST00000638144.1:n.416A=
ENST00000646164.1:c.39-8622A=
ENST00000249806.9:c.773A=	ENSP00000249806.5:p.Asn258=
ENST00000538696.5:c.869A=	ENSP00000445770.1:p.Asn290=
ENST00000562767.1:c.84-10675A=	ENSP00000456336.1:n.84-10675A=
ENST00000565471.5:c.314A=	ENSP00000457384.1:p.Asn105=
ENST00000566347.5:c.584A=	ENSP00000457783.1:p.Asn195=
ENST00000567060.5:c.*171A=	ENSP00000454818.1:n.*171A=
NM_017882.2:c.773A=	NP_060352.1:p.Asn258=
NM_017882.3:c.773A= MANE Select	NP_060352.1:p.Asn258=