Canonical Allele Identifier: CA2184881283

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211247_68211248delinsTG , CM000677.2:g.68211247_68211248delinsTG	GRCh38
NC_000015.9:g.68503585_68503586delinsTG , CM000677.1:g.68503585_68503586delinsTG	GRCh37
NC_000015.8:g.66290639_66290640delinsTG	NCBI36
NG_008764.2:g.50964_50965delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+15_542+16delinsCA MANE Select	ENSP00000249806.5:n.542+15_542+16delinsCA
ENST00000562767.2:c.84-13620_84-13619delinsCA	ENSP00000456336.1:n.84-13620_84-13619delinsCA
ENST00000563917.2:n.384+15_384+16delinsCA
ENST00000565471.6:c.84-1489_84-1488delinsCA	ENSP00000457384.1:n.84-1489_84-1488delinsCA
ENST00000635747.1:c.*445+15_*445+16delinsCA	ENSP00000490627.1:n.*445+15_*445+16delinsCA
ENST00000636212.1:c.*212+15_*212+16delinsCA	ENSP00000489851.1:n.*212+15_*212+16delinsCA
ENST00000636314.1:c.238+15_238+16delinsCA	ENSP00000490295.1:n.238+15_238+16delinsCA
ENST00000636674.1:n.1644+15_1644+16delinsCA
ENST00000636964.1:n.2070+15_2070+16delinsCA
ENST00000637054.1:c.198+7288_198+7289delinsCA	ENSP00000490807.1:n.198+7288_198+7289delinsCA
ENST00000637223.1:c.*256+15_*256+16delinsCA	ENSP00000490010.1:n.*256+15_*256+16delinsCA
ENST00000637329.1:c.511+15_511+16delinsCA
ENST00000637450.1:c.*196+15_*196+16delinsCA	ENSP00000490204.1:n.*196+15_*196+16delinsCA
ENST00000637494.1:c.254+15_254+16delinsCA	ENSP00000490057.1:n.254+15_254+16delinsCA
ENST00000637667.1:c.443+15_443+16delinsCA	ENSP00000489843.1:n.443+15_443+16delinsCA
ENST00000637823.1:c.367+15_367+16delinsCA
ENST00000637888.1:c.198+7288_198+7289delinsCA	ENSP00000490546.1:n.198+7288_198+7289delinsCA
ENST00000638076.1:c.*145+15_*145+16delinsCA	ENSP00000490373.1:n.*145+15_*145+16delinsCA
ENST00000638144.1:n.185+15_185+16delinsCA
ENST00000646164.1:c.38+7288_38+7289delinsCA
ENST00000249806.9:c.542+15_542+16delinsCA	ENSP00000249806.5:n.542+15_542+16delinsCA
ENST00000538696.5:c.638+15_638+16delinsCA	ENSP00000445770.1:n.638+15_638+16delinsCA
ENST00000562767.1:c.84-13620_84-13619delinsCA	ENSP00000456336.1:n.84-13620_84-13619delinsCA
ENST00000563917.1:n.442+15_442+16delinsCA
ENST00000564752.1:c.568+15_568+16delinsCA	ENSP00000457822.1:n.568+15_568+16delinsCA
ENST00000565471.5:c.84-1489_84-1488delinsCA	ENSP00000457384.1:n.84-1489_84-1488delinsCA
ENST00000566347.5:c.353+15_353+16delinsCA	ENSP00000457783.1:n.353+15_353+16delinsCA
ENST00000567060.5:c.298-1528_298-1527delinsCA	ENSP00000454818.1:n.298-1528_298-1527delinsCA
NM_017882.2:c.542+15_542+16delinsCA	NP_060352.1:n.542+15_542+16delinsCA
XR_931861.1:n.764+15_764+16delinsCA
NM_017882.3:c.542+15_542+16delinsCA MANE Select	NP_060352.1:n.542+15_542+16delinsCA