Canonical Allele Identifier: CA2184877938

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208231T= , CM000677.2:g.68208231T=	GRCh38
NC_000015.9:g.68500569T= , CM000677.1:g.68500569T=	GRCh37
NC_000015.8:g.66287623T=	NCBI36
NG_008764.2:g.53981A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.845A= MANE Select	ENSP00000249806.5:p.Asn282=
ENST00000562767.2:c.84-10603A=	ENSP00000456336.1:n.84-10603A=
ENST00000565471.6:c.386A=	ENSP00000457384.1:p.Asn129=
ENST00000635747.1:c.*748A=	ENSP00000490627.1:n.*748A=
ENST00000636212.1:c.*515A=	ENSP00000489851.1:n.*515A=
ENST00000636674.1:n.1947A=
ENST00000636964.1:n.2373A=
ENST00000637054.1:c.198+10305A=	ENSP00000490807.1:n.198+10305A=
ENST00000637329.1:c.814A=
ENST00000637450.1:c.*499A=	ENSP00000490204.1:n.*499A=
ENST00000637494.1:c.557A=	ENSP00000490057.1:p.Asn186=
ENST00000637667.1:c.746A=	ENSP00000489843.1:p.Asn249=
ENST00000637823.1:c.670A=
ENST00000637888.1:c.198+10305A=	ENSP00000490546.1:n.198+10305A=
ENST00000638076.1:c.*448A=	ENSP00000490373.1:n.*448A=
ENST00000638144.1:n.488A=
ENST00000646164.1:c.39-8550A=
ENST00000249806.9:c.845A=	ENSP00000249806.5:p.Asn282=
ENST00000538696.5:c.941A=	ENSP00000445770.1:p.Asn314=
ENST00000562767.1:c.84-10603A=	ENSP00000456336.1:n.84-10603A=
ENST00000565471.5:c.386A=	ENSP00000457384.1:p.Asn129=
ENST00000566347.5:c.656A=	ENSP00000457783.1:p.Asn219=
ENST00000567060.5:c.*243A=	ENSP00000454818.1:n.*243A=
NM_017882.2:c.845A=	NP_060352.1:p.Asn282=
NM_017882.3:c.845A= MANE Select	NP_060352.1:p.Asn282=