Canonical Allele Identifier: CA2184872604

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211764_68211766delinsCAG , CM000677.2:g.68211764_68211766delinsCAG	GRCh38
NC_000015.9:g.68504102_68504104delinsCAG , CM000677.1:g.68504102_68504104delinsCAG	GRCh37
NC_000015.8:g.66291156_66291158delinsCAG	NCBI36
NG_008764.2:g.50446_50448delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.395_397delinsCTG MANE Select	ENSP00000249806.5:p.Ser132=
ENST00000562767.2:c.84-14138_84-14136delinsCTG	ENSP00000456336.1:n.84-14138_84-14136delinsCTG
ENST00000563917.2:n.237_239delinsCTG
ENST00000565471.6:c.84-2007_84-2005delinsCTG	ENSP00000457384.1:n.84-2007_84-2005delinsCTG
ENST00000635747.1:c.*298_*300delinsCTG	ENSP00000490627.1:n.*298_*300delinsCTG
ENST00000636212.1:c.298-25_298-23delinsCTG	ENSP00000489851.1:n.298-25_298-23delinsCTG
ENST00000636314.1:c.183-448_183-446delinsCTG	ENSP00000490295.1:n.183-448_183-446delinsCTG
ENST00000636674.1:n.1378_1380delinsCTG
ENST00000636964.1:n.1567_1569delinsCTG
ENST00000637054.1:c.198+6770_198+6772delinsCTG	ENSP00000490807.1:n.198+6770_198+6772delinsCTG
ENST00000637223.1:c.*201-448_*201-446delinsCTG	ENSP00000490010.1:n.*201-448_*201-446delinsCTG
ENST00000637329.1:c.364_366delinsCTG
ENST00000637450.1:c.*49_*51delinsCTG	ENSP00000490204.1:n.*49_*51delinsCTG
ENST00000637494.1:c.199-448_199-446delinsCTG	ENSP00000490057.1:n.199-448_199-446delinsCTG
ENST00000637667.1:c.296_298delinsCTG	ENSP00000489843.1:p.Ser99=
ENST00000637823.1:c.224-123_224-121delinsCTG
ENST00000637888.1:c.198+6770_198+6772delinsCTG	ENSP00000490546.1:n.198+6770_198+6772delinsCTG
ENST00000638076.1:c.395_397delinsCTG	ENSP00000490373.1:p.Ser132=
ENST00000638144.1:n.130-448_130-446delinsCTG
ENST00000646164.1:c.38+6770_38+6772delinsCTG
ENST00000249806.9:c.395_397delinsCTG	ENSP00000249806.5:p.Ser132=
ENST00000538696.5:c.491_493delinsCTG	ENSP00000445770.1:p.Ser164=
ENST00000562767.1:c.84-14138_84-14136delinsCTG	ENSP00000456336.1:n.84-14138_84-14136delinsCTG
ENST00000563917.1:n.176_178delinsCTG
ENST00000564752.1:c.395_397delinsCTG	ENSP00000457822.1:p.Ser132=
ENST00000565471.5:c.84-2007_84-2005delinsCTG	ENSP00000457384.1:n.84-2007_84-2005delinsCTG
ENST00000566347.5:c.298-448_298-446delinsCTG	ENSP00000457783.1:n.298-448_298-446delinsCTG
ENST00000567060.5:c.298-2046_298-2044delinsCTG	ENSP00000454818.1:n.298-2046_298-2044delinsCTG
NM_017882.2:c.395_397delinsCTG	NP_060352.1:p.Ser132=
XR_931861.1:n.498_500delinsCTG
NM_017882.3:c.395_397delinsCTG MANE Select	NP_060352.1:p.Ser132=