Canonical Allele Identifier: CA2184872596

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211760T= , CM000677.2:g.68211760T=	GRCh38
NC_000015.9:g.68504098T= , CM000677.1:g.68504098T=	GRCh37
NC_000015.8:g.66291152T=	NCBI36
NG_008764.2:g.50452A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.401A= MANE Select	ENSP00000249806.5:p.Asn134=
ENST00000562767.2:c.84-14132A=	ENSP00000456336.1:n.84-14132A=
ENST00000563917.2:n.243A=
ENST00000565471.6:c.84-2001A=	ENSP00000457384.1:n.84-2001A=
ENST00000635747.1:c.*304A=	ENSP00000490627.1:n.*304A=
ENST00000636212.1:c.298-19A=	ENSP00000489851.1:n.298-19A=
ENST00000636314.1:c.183-442A=	ENSP00000490295.1:n.183-442A=
ENST00000636674.1:n.1384A=
ENST00000636964.1:n.1573A=
ENST00000637054.1:c.198+6776A=	ENSP00000490807.1:n.198+6776A=
ENST00000637223.1:c.*201-442A=	ENSP00000490010.1:n.*201-442A=
ENST00000637329.1:c.370A=
ENST00000637450.1:c.*55A=	ENSP00000490204.1:n.*55A=
ENST00000637494.1:c.199-442A=	ENSP00000490057.1:n.199-442A=
ENST00000637667.1:c.302A=	ENSP00000489843.1:p.Asn101=
ENST00000637823.1:c.224-117A=
ENST00000637888.1:c.198+6776A=	ENSP00000490546.1:n.198+6776A=
ENST00000638076.1:c.401A=	ENSP00000490373.1:p.Asn134=
ENST00000638144.1:n.130-442A=
ENST00000646164.1:c.38+6776A=
ENST00000249806.9:c.401A=	ENSP00000249806.5:p.Asn134=
ENST00000538696.5:c.497A=	ENSP00000445770.1:p.Asn166=
ENST00000562767.1:c.84-14132A=	ENSP00000456336.1:n.84-14132A=
ENST00000563917.1:n.182A=
ENST00000564752.1:c.401A=	ENSP00000457822.1:p.Asn134=
ENST00000565471.5:c.84-2001A=	ENSP00000457384.1:n.84-2001A=
ENST00000566347.5:c.298-442A=	ENSP00000457783.1:n.298-442A=
ENST00000567060.5:c.298-2040A=	ENSP00000454818.1:n.298-2040A=
NM_017882.2:c.401A=	NP_060352.1:p.Asn134=
XR_931861.1:n.504A=
NM_017882.3:c.401A= MANE Select	NP_060352.1:p.Asn134=