Canonical Allele Identifier: CA252983
Gene: CLN6 HGNC NCBI

Linked Data

dbSNP Id: rs774543080

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211767_68211768del , CM000677.2:g.68211767_68211768del GRCh38
NC_000015.9:g.68504105_68504106del , CM000677.1:g.68504105_68504106del GRCh37
NC_000015.8:g.66291159_66291160del NCBI36
NG_008764.2:g.50446_50447del

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.395_396del MANE Select ENSP00000249806.5:p.Ser132CysfsTer18
ENST00000562767.2:c.84-14138_84-14137del ENSP00000456336.1:n.84-14138_84-14137del
ENST00000563917.2:n.237_238del
ENST00000565471.6:c.84-2007_84-2006del ENSP00000457384.1:n.84-2007_84-2006del
ENST00000635747.1:c.*298_*299del ENSP00000490627.1:n.*298_*299del
ENST00000636212.1:c.298-25_298-24del ENSP00000489851.1:n.298-25_298-24del
ENST00000636314.1:c.183-448_183-447del ENSP00000490295.1:n.183-448_183-447del
ENST00000636674.1:n.1378_1379del
ENST00000636964.1:n.1567_1568del
ENST00000637054.1:c.198+6770_198+6771del ENSP00000490807.1:n.198+6770_198+6771del
ENST00000637223.1:c.*201-448_*201-447del ENSP00000490010.1:n.*201-448_*201-447del
ENST00000637329.1:c.364_365del
ENST00000637450.1:c.*49_*50del ENSP00000490204.1:n.*49_*50del
ENST00000637494.1:c.199-448_199-447del ENSP00000490057.1:n.199-448_199-447del
ENST00000637667.1:c.296_297del ENSP00000489843.1:p.Ser99CysfsTer18
ENST00000637823.1:c.224-123_224-122del
ENST00000637888.1:c.198+6770_198+6771del ENSP00000490546.1:n.198+6770_198+6771del
ENST00000638076.1:c.395_396del ENSP00000490373.1:p.Ser132CysfsTer18
ENST00000638144.1:n.130-448_130-447del
ENST00000646164.1:c.38+6770_38+6771del
ENST00000249806.9:c.395_396del ENSP00000249806.5:p.Ser132CysfsTer18
ENST00000538696.5:c.491_492del ENSP00000445770.1:p.Ser164CysfsTer18
ENST00000562767.1:c.84-14138_84-14137del ENSP00000456336.1:n.84-14138_84-14137del
ENST00000563917.1:n.176_177del
ENST00000564752.1:c.395_396del ENSP00000457822.1:p.Ser132CysfsTer18
ENST00000565471.5:c.84-2007_84-2006del ENSP00000457384.1:n.84-2007_84-2006del
ENST00000566347.5:c.298-448_298-447del ENSP00000457783.1:n.298-448_298-447del
ENST00000567060.5:c.298-2046_298-2045del ENSP00000454818.1:n.298-2046_298-2045del
NM_017882.2:c.395_396del NP_060352.1:p.Ser132CysfsTer18
XR_931861.1:n.498_499del
NM_017882.3:c.395_396del MANE Select NP_060352.1:p.Ser132CysfsTer18