Canonical Allele Identifier: CA2184878194

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208344G= , CM000677.2:g.68208344G=	GRCh38
NC_000015.9:g.68500682G= , CM000677.1:g.68500682G=	GRCh37
NC_000015.8:g.66287736G=	NCBI36
NG_008764.2:g.53868C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.732C= MANE Select	ENSP00000249806.5:p.Leu244=
ENST00000562767.2:c.84-10716C=	ENSP00000456336.1:n.84-10716C=
ENST00000565471.6:c.273C=	ENSP00000457384.1:p.Leu91=
ENST00000635747.1:c.*635C=	ENSP00000490627.1:n.*635C=
ENST00000636212.1:c.*402C=	ENSP00000489851.1:n.*402C=
ENST00000636674.1:n.1834C=
ENST00000636964.1:n.2260C=
ENST00000637054.1:c.198+10192C=	ENSP00000490807.1:n.198+10192C=
ENST00000637329.1:c.701C=
ENST00000637450.1:c.*386C=	ENSP00000490204.1:n.*386C=
ENST00000637494.1:c.444C=	ENSP00000490057.1:p.Leu148=
ENST00000637667.1:c.633C=	ENSP00000489843.1:p.Leu211=
ENST00000637823.1:c.557C=
ENST00000637888.1:c.198+10192C=	ENSP00000490546.1:n.198+10192C=
ENST00000638076.1:c.*335C=	ENSP00000490373.1:n.*335C=
ENST00000638144.1:n.375C=
ENST00000646164.1:c.39-8663C=
ENST00000249806.9:c.732C=	ENSP00000249806.5:p.Leu244=
ENST00000538696.5:c.828C=	ENSP00000445770.1:p.Leu276=
ENST00000562767.1:c.84-10716C=	ENSP00000456336.1:n.84-10716C=
ENST00000564752.1:c.*116C=	ENSP00000457822.1:n.*116C=
ENST00000565471.5:c.273C=	ENSP00000457384.1:p.Leu91=
ENST00000566347.5:c.543C=	ENSP00000457783.1:p.Leu181=
ENST00000567060.5:c.*130C=	ENSP00000454818.1:n.*130C=
NM_017882.2:c.732C=	NP_060352.1:p.Leu244=
NM_017882.3:c.732C= MANE Select	NP_060352.1:p.Leu244=