Canonical Allele Identifier: CA392973079

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211261A>G , CM000677.2:g.68211261A>G	GRCh38
NC_000015.9:g.68503599A>G , CM000677.1:g.68503599A>G	GRCh37
NC_000015.8:g.66290653A>G	NCBI36
NG_008764.2:g.50951T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.542+2T>C MANE Select	NP_060352.1:n.542+2T>C
ENST00000249806.11:c.542+2T>C MANE Select	ENSP00000249806.5:n.542+2T>C
NM_017882.2:c.542+2T>C	NP_060352.1:n.542+2T>C
ENST00000249806.9:c.542+2T>C	ENSP00000249806.5:n.542+2T>C
ENST00000538696.5:c.638+2T>C	ENSP00000445770.1:n.638+2T>C
ENST00000562767.1:c.84-13633T>C	ENSP00000456336.1:n.84-13633T>C
ENST00000562767.2:c.84-13633T>C	ENSP00000456336.1:n.84-13633T>C
ENST00000563917.1:n.442+2T>C
ENST00000563917.2:n.384+2T>C
ENST00000564752.1:c.568+2T>C	ENSP00000457822.1:n.568+2T>C
ENST00000565471.5:c.84-1502T>C	ENSP00000457384.1:n.84-1502T>C
ENST00000565471.6:c.84-1502T>C	ENSP00000457384.1:n.84-1502T>C
ENST00000566347.5:c.353+2T>C	ENSP00000457783.1:n.353+2T>C
ENST00000567060.5:c.298-1541T>C	ENSP00000454818.1:n.298-1541T>C
ENST00000635747.1:c.*445+2T>C	ENSP00000490627.1:n.*445+2T>C
ENST00000636212.1:c.*212+2T>C	ENSP00000489851.1:n.*212+2T>C
ENST00000636314.1:c.238+2T>C	ENSP00000490295.1:n.238+2T>C
ENST00000636674.1:n.1644+2T>C
ENST00000636964.1:n.2070+2T>C
ENST00000637054.1:c.198+7275T>C	ENSP00000490807.1:n.198+7275T>C
ENST00000637223.1:c.*256+2T>C	ENSP00000490010.1:n.*256+2T>C
ENST00000637329.1:c.511+2T>C
ENST00000637450.1:c.*196+2T>C	ENSP00000490204.1:n.*196+2T>C
ENST00000637494.1:c.254+2T>C	ENSP00000490057.1:n.254+2T>C
ENST00000637667.1:c.443+2T>C	ENSP00000489843.1:n.443+2T>C
ENST00000637823.1:c.367+2T>C
ENST00000637888.1:c.198+7275T>C	ENSP00000490546.1:n.198+7275T>C
ENST00000638076.1:c.*145+2T>C	ENSP00000490373.1:n.*145+2T>C
ENST00000638144.1:n.185+2T>C
ENST00000646164.1:c.38+7275T>C
XR_931861.1:n.764+2T>C