Canonical Allele Identifier: CA2184879668

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209735G= , CM000677.2:g.68209735G=	GRCh38
NC_000015.9:g.68502073G= , CM000677.1:g.68502073G=	GRCh37
NC_000015.8:g.66289127G=	NCBI36
NG_008764.2:g.52477C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.567C= MANE Select	ENSP00000249806.5:p.Leu189=
ENST00000562767.2:c.84-12107C=	ENSP00000456336.1:n.84-12107C=
ENST00000563917.2:n.409C=
ENST00000565471.6:c.108C=	ENSP00000457384.1:p.Leu36=
ENST00000635747.1:c.*470C=	ENSP00000490627.1:n.*470C=
ENST00000636212.1:c.*237C=	ENSP00000489851.1:n.*237C=
ENST00000636314.1:c.263C=	ENSP00000490295.1:p.Ser88=
ENST00000636674.1:n.1669C=
ENST00000636964.1:n.2095C=
ENST00000637054.1:c.198+8801C=	ENSP00000490807.1:n.198+8801C=
ENST00000637223.1:c.*281C=	ENSP00000490010.1:n.*281C=
ENST00000637329.1:c.536C=
ENST00000637450.1:c.*221C=	ENSP00000490204.1:n.*221C=
ENST00000637494.1:c.279C=	ENSP00000490057.1:p.Leu93=
ENST00000637667.1:c.468C=	ENSP00000489843.1:p.Leu156=
ENST00000637823.1:c.392C=
ENST00000637888.1:c.198+8801C=	ENSP00000490546.1:n.198+8801C=
ENST00000638076.1:c.*170C=	ENSP00000490373.1:n.*170C=
ENST00000638144.1:n.210C=
ENST00000646164.1:c.38+8801C=
ENST00000249806.9:c.567C=	ENSP00000249806.5:p.Leu189=
ENST00000538696.5:c.663C=	ENSP00000445770.1:p.Leu221=
ENST00000562767.1:c.84-12107C=	ENSP00000456336.1:n.84-12107C=
ENST00000563917.1:n.467C=
ENST00000564752.1:c.593C=	ENSP00000457822.1:p.Ser198=
ENST00000565471.5:c.108C=	ENSP00000457384.1:p.Leu36=
ENST00000566347.5:c.378C=	ENSP00000457783.1:p.Leu126=
ENST00000567060.5:c.298-15C=	ENSP00000454818.1:n.298-15C=
NM_017882.2:c.567C=	NP_060352.1:p.Leu189=
XR_931861.1:n.789C=
NM_017882.3:c.567C= MANE Select	NP_060352.1:p.Leu189=