Canonical Allele Identifier: CA2184872257

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211593_68211594delinsAG , CM000677.2:g.68211593_68211594delinsAG	GRCh38
NC_000015.9:g.68503931_68503932delinsAG , CM000677.1:g.68503931_68503932delinsAG	GRCh37
NC_000015.8:g.66290985_66290986delinsAG	NCBI36
NG_008764.2:g.50618_50619delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+81_486+82delinsCT MANE Select	ENSP00000249806.5:n.486+81_486+82delinsCT
ENST00000562767.2:c.84-13966_84-13965delinsCT	ENSP00000456336.1:n.84-13966_84-13965delinsCT
ENST00000563917.2:n.328+81_328+82delinsCT
ENST00000565471.6:c.84-1835_84-1834delinsCT	ENSP00000457384.1:n.84-1835_84-1834delinsCT
ENST00000635747.1:c.*389+81_*389+82delinsCT	ENSP00000490627.1:n.*389+81_*389+82delinsCT
ENST00000636212.1:c.*118_*119delinsCT	ENSP00000489851.1:n.*118_*119delinsCT
ENST00000636314.1:c.183-276_183-275delinsCT	ENSP00000490295.1:n.183-276_183-275delinsCT
ENST00000636674.1:n.1550_1551delinsCT
ENST00000636964.1:n.1739_1740delinsCT
ENST00000637054.1:c.198+6942_198+6943delinsCT	ENSP00000490807.1:n.198+6942_198+6943delinsCT
ENST00000637223.1:c.*201-276_*201-275delinsCT	ENSP00000490010.1:n.*201-276_*201-275delinsCT
ENST00000637329.1:c.455+81_455+82delinsCT
ENST00000637450.1:c.*140+81_*140+82delinsCT	ENSP00000490204.1:n.*140+81_*140+82delinsCT
ENST00000637494.1:c.199-276_199-275delinsCT	ENSP00000490057.1:n.199-276_199-275delinsCT
ENST00000637667.1:c.387+81_387+82delinsCT	ENSP00000489843.1:n.387+81_387+82delinsCT
ENST00000637823.1:c.273_274delinsCT
ENST00000637888.1:c.198+6942_198+6943delinsCT	ENSP00000490546.1:n.198+6942_198+6943delinsCT
ENST00000638076.1:c.*51_*52delinsCT	ENSP00000490373.1:n.*51_*52delinsCT
ENST00000638144.1:n.130-276_130-275delinsCT
ENST00000646164.1:c.38+6942_38+6943delinsCT
ENST00000249806.9:c.486+81_486+82delinsCT	ENSP00000249806.5:n.486+81_486+82delinsCT
ENST00000538696.5:c.582+81_582+82delinsCT	ENSP00000445770.1:n.582+81_582+82delinsCT
ENST00000562767.1:c.84-13966_84-13965delinsCT	ENSP00000456336.1:n.84-13966_84-13965delinsCT
ENST00000563917.1:n.348_349delinsCT
ENST00000564752.1:c.512+55_512+56delinsCT	ENSP00000457822.1:n.512+55_512+56delinsCT
ENST00000565471.5:c.84-1835_84-1834delinsCT	ENSP00000457384.1:n.84-1835_84-1834delinsCT
ENST00000566347.5:c.298-276_298-275delinsCT	ENSP00000457783.1:n.298-276_298-275delinsCT
ENST00000567060.5:c.298-1874_298-1873delinsCT	ENSP00000454818.1:n.298-1874_298-1873delinsCT
NM_017882.2:c.486+81_486+82delinsCT	NP_060352.1:n.486+81_486+82delinsCT
XR_931861.1:n.670_671delinsCT
NM_017882.3:c.486+81_486+82delinsCT MANE Select	NP_060352.1:n.486+81_486+82delinsCT