Canonical Allele Identifier: CA2184872329

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211641G= , CM000677.2:g.68211641G=	GRCh38
NC_000015.9:g.68503979G= , CM000677.1:g.68503979G=	GRCh37
NC_000015.8:g.66291033G=	NCBI36
NG_008764.2:g.50571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+34C= MANE Select	ENSP00000249806.5:n.486+34C=
ENST00000562767.2:c.84-14013C=	ENSP00000456336.1:n.84-14013C=
ENST00000563917.2:n.328+34C=
ENST00000565471.6:c.84-1882C=	ENSP00000457384.1:n.84-1882C=
ENST00000635747.1:c.*389+34C=	ENSP00000490627.1:n.*389+34C=
ENST00000636212.1:c.*71C=	ENSP00000489851.1:n.*71C=
ENST00000636314.1:c.183-323C=	ENSP00000490295.1:n.183-323C=
ENST00000636674.1:n.1503C=
ENST00000636964.1:n.1692C=
ENST00000637054.1:c.198+6895C=	ENSP00000490807.1:n.198+6895C=
ENST00000637223.1:c.*201-323C=	ENSP00000490010.1:n.*201-323C=
ENST00000637329.1:c.455+34C=
ENST00000637450.1:c.*140+34C=	ENSP00000490204.1:n.*140+34C=
ENST00000637494.1:c.199-323C=	ENSP00000490057.1:n.199-323C=
ENST00000637667.1:c.387+34C=	ENSP00000489843.1:n.387+34C=
ENST00000637823.1:c.226C=
ENST00000637888.1:c.198+6895C=	ENSP00000490546.1:n.198+6895C=
ENST00000638076.1:c.*4C=	ENSP00000490373.1:n.*4C=
ENST00000638144.1:n.130-323C=
ENST00000646164.1:c.38+6895C=
ENST00000249806.9:c.486+34C=	ENSP00000249806.5:n.486+34C=
ENST00000538696.5:c.582+34C=	ENSP00000445770.1:n.582+34C=
ENST00000562767.1:c.84-14013C=	ENSP00000456336.1:n.84-14013C=
ENST00000563917.1:n.301C=
ENST00000564752.1:c.512+8C=	ENSP00000457822.1:n.512+8C=
ENST00000565471.5:c.84-1882C=	ENSP00000457384.1:n.84-1882C=
ENST00000566347.5:c.298-323C=	ENSP00000457783.1:n.298-323C=
ENST00000567060.5:c.298-1921C=	ENSP00000454818.1:n.298-1921C=
NM_017882.2:c.486+34C=	NP_060352.1:n.486+34C=
XR_931861.1:n.623C=
NM_017882.3:c.486+34C= MANE Select	NP_060352.1:n.486+34C=