Canonical Allele Identifier: CA2184872308

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211630_68211632delinsCTG , CM000677.2:g.68211630_68211632delinsCTG	GRCh38
NC_000015.9:g.68503968_68503970delinsCTG , CM000677.1:g.68503968_68503970delinsCTG	GRCh37
NC_000015.8:g.66291022_66291024delinsCTG	NCBI36
NG_008764.2:g.50580_50582delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+43_486+45delinsCAG MANE Select	ENSP00000249806.5:n.486+43_486+45delinsCAG
ENST00000562767.2:c.84-14004_84-14002delinsCAG	ENSP00000456336.1:n.84-14004_84-14002delinsCAG
ENST00000563917.2:n.328+43_328+45delinsCAG
ENST00000565471.6:c.84-1873_84-1871delinsCAG	ENSP00000457384.1:n.84-1873_84-1871delinsCAG
ENST00000635747.1:c.*389+43_*389+45delinsCAG	ENSP00000490627.1:n.*389+43_*389+45delinsCAG
ENST00000636212.1:c.*80_*82delinsCAG	ENSP00000489851.1:n.*80_*82delinsCAG
ENST00000636314.1:c.183-314_183-312delinsCAG	ENSP00000490295.1:n.183-314_183-312delinsCAG
ENST00000636674.1:n.1512_1514delinsCAG
ENST00000636964.1:n.1701_1703delinsCAG
ENST00000637054.1:c.198+6904_198+6906delinsCAG	ENSP00000490807.1:n.198+6904_198+6906delinsCAG
ENST00000637223.1:c.*201-314_*201-312delinsCAG	ENSP00000490010.1:n.*201-314_*201-312delinsCAG
ENST00000637329.1:c.455+43_455+45delinsCAG
ENST00000637450.1:c.*140+43_*140+45delinsCAG	ENSP00000490204.1:n.*140+43_*140+45delinsCAG
ENST00000637494.1:c.199-314_199-312delinsCAG	ENSP00000490057.1:n.199-314_199-312delinsCAG
ENST00000637667.1:c.387+43_387+45delinsCAG	ENSP00000489843.1:n.387+43_387+45delinsCAG
ENST00000637823.1:c.235_237delinsCAG
ENST00000637888.1:c.198+6904_198+6906delinsCAG	ENSP00000490546.1:n.198+6904_198+6906delinsCAG
ENST00000638076.1:c.*13_*15delinsCAG	ENSP00000490373.1:n.*13_*15delinsCAG
ENST00000638144.1:n.130-314_130-312delinsCAG
ENST00000646164.1:c.38+6904_38+6906delinsCAG
ENST00000249806.9:c.486+43_486+45delinsCAG	ENSP00000249806.5:n.486+43_486+45delinsCAG
ENST00000538696.5:c.582+43_582+45delinsCAG	ENSP00000445770.1:n.582+43_582+45delinsCAG
ENST00000562767.1:c.84-14004_84-14002delinsCAG	ENSP00000456336.1:n.84-14004_84-14002delinsCAG
ENST00000563917.1:n.310_312delinsCAG
ENST00000564752.1:c.512+17_512+19delinsCAG	ENSP00000457822.1:n.512+17_512+19delinsCAG
ENST00000565471.5:c.84-1873_84-1871delinsCAG	ENSP00000457384.1:n.84-1873_84-1871delinsCAG
ENST00000566347.5:c.298-314_298-312delinsCAG	ENSP00000457783.1:n.298-314_298-312delinsCAG
ENST00000567060.5:c.298-1912_298-1910delinsCAG	ENSP00000454818.1:n.298-1912_298-1910delinsCAG
NM_017882.2:c.486+43_486+45delinsCAG	NP_060352.1:n.486+43_486+45delinsCAG
XR_931861.1:n.632_634delinsCAG
NM_017882.3:c.486+43_486+45delinsCAG MANE Select	NP_060352.1:n.486+43_486+45delinsCAG