Canonical Allele Identifier: CA2804592492

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218613_68218614del , CM000677.2:g.68218613_68218614del	GRCh38
NC_000015.9:g.68510951_68510952del , CM000677.1:g.68510951_68510952del	GRCh37
NC_000015.8:g.66298005_66298006del	NCBI36
NG_008764.2:g.43598_43599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.120_121del MANE Select	ENSP00000249806.5:p.Ala41SerfsTer?
ENST00000562767.2:c.83+10888_83+10889del	ENSP00000456336.1:n.83+10888_83+10889del
ENST00000563917.2:n.41-4226_41-4225del
ENST00000565471.6:c.84-8855_84-8854del	ENSP00000457384.1:n.84-8855_84-8854del
ENST00000569336.2:n.29_30del
ENST00000635747.1:c.*23_*24del	ENSP00000490627.1:n.*23_*24del
ENST00000636020.1:n.252_253del
ENST00000636212.1:c.120_121del	ENSP00000489851.1:p.Ala41SerfsTer?
ENST00000636314.1:c.84-4226_84-4225del	ENSP00000490295.1:n.84-4226_84-4225del
ENST00000636876.1:c.*140_*141del	ENSP00000489950.1:n.*140_*141del
ENST00000637054.1:c.120_121del	ENSP00000490807.1:p.Ala41SerfsTer?
ENST00000637223.1:c.*23_*24del	ENSP00000490010.1:n.*23_*24del
ENST00000637329.1:c.31_32del
ENST00000637450.1:c.84-4226_84-4225del	ENSP00000490204.1:n.84-4226_84-4225del
ENST00000637494.1:c.120_121del	ENSP00000490057.1:p.Ala41SerfsTer?
ENST00000637667.1:c.120_121del	ENSP00000489843.1:p.Ala41SerfsTer?
ENST00000637823.1:c.46_47del
ENST00000637888.1:c.120_121del	ENSP00000490546.1:p.Ala41SerfsTer?
ENST00000638076.1:c.120_121del	ENSP00000490373.1:p.Ala41SerfsTer?
ENST00000638144.1:n.31-4226_31-4225del
ENST00000249806.9:c.120_121del	ENSP00000249806.5:p.Ala41SerfsTer?
ENST00000538696.5:c.216_217del	ENSP00000445770.1:p.Ala73SerfsTer?
ENST00000562767.1:c.83+10888_83+10889del	ENSP00000456336.1:n.83+10888_83+10889del
ENST00000564752.1:c.120_121del	ENSP00000457822.1:p.Ala41SerfsTer?
ENST00000564846.1:n.552_553del
ENST00000565471.5:c.84-8855_84-8854del	ENSP00000457384.1:n.84-8855_84-8854del
ENST00000566347.5:c.120_121del	ENSP00000457783.1:p.Ala41SerfsTer?
ENST00000567060.5:c.120_121del	ENSP00000454818.1:p.Ala41SerfsTer?
ENST00000569336.1:n.206_207del
NM_017882.2:c.120_121del	NP_060352.1:p.Ala41SerfsTer?
XR_931861.1:n.223_224del
NM_017882.3:c.120_121del MANE Select	NP_060352.1:p.Ala41SerfsTer?