Canonical Allele Identifier: CA2184879543

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209671G= , CM000677.2:g.68209671G=	GRCh38
NC_000015.9:g.68502009G= , CM000677.1:g.68502009G=	GRCh37
NC_000015.8:g.66289063G=	NCBI36
NG_008764.2:g.52541C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.631C= MANE Select	ENSP00000249806.5:p.Leu211=
ENST00000562767.2:c.84-12043C=	ENSP00000456336.1:n.84-12043C=
ENST00000563917.2:n.473C=
ENST00000565471.6:c.172C=	ENSP00000457384.1:p.Leu58=
ENST00000635747.1:c.*534C=	ENSP00000490627.1:n.*534C=
ENST00000636212.1:c.*301C=	ENSP00000489851.1:n.*301C=
ENST00000636674.1:n.1733C=
ENST00000636964.1:n.2159C=
ENST00000637054.1:c.198+8865C=	ENSP00000490807.1:n.198+8865C=
ENST00000637329.1:c.600C=
ENST00000637450.1:c.*285C=	ENSP00000490204.1:n.*285C=
ENST00000637494.1:c.343C=	ENSP00000490057.1:p.Leu115=
ENST00000637667.1:c.532C=	ENSP00000489843.1:p.Leu178=
ENST00000637823.1:c.456C=
ENST00000637888.1:c.198+8865C=	ENSP00000490546.1:n.198+8865C=
ENST00000638076.1:c.*234C=	ENSP00000490373.1:n.*234C=
ENST00000638144.1:n.274C=
ENST00000646164.1:c.38+8865C=
ENST00000249806.9:c.631C=	ENSP00000249806.5:p.Leu211=
ENST00000538696.5:c.727C=	ENSP00000445770.1:p.Leu243=
ENST00000562767.1:c.84-12043C=	ENSP00000456336.1:n.84-12043C=
ENST00000563917.1:n.531C=
ENST00000564752.1:c.*15C=	ENSP00000457822.1:n.*15C=
ENST00000565471.5:c.172C=	ENSP00000457384.1:p.Leu58=
ENST00000566347.5:c.442C=	ENSP00000457783.1:p.Leu148=
ENST00000567060.5:c.*29C=	ENSP00000454818.1:n.*29C=
NM_017882.2:c.631C=	NP_060352.1:p.Leu211=
XR_931861.1:n.853C=
NM_017882.3:c.631C= MANE Select	NP_060352.1:p.Leu211=