Canonical Allele Identifier: CA2695220939
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211286del , CM000677.2:g.68211286del GRCh38
NC_000015.9:g.68503624del , CM000677.1:g.68503624del GRCh37
NC_000015.8:g.66290678del NCBI36
NG_008764.2:g.50926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.519del MANE Select ENSP00000249806.5:p.Asp173GlufsTer?
ENST00000562767.2:c.84-13658del ENSP00000456336.1:n.84-13658del
ENST00000563917.2:n.361del
ENST00000565471.6:c.84-1527del ENSP00000457384.1:n.84-1527del
ENST00000635747.1:c.*422del ENSP00000490627.1:n.*422del
ENST00000636212.1:c.*189del ENSP00000489851.1:n.*189del
ENST00000636314.1:c.215del ENSP00000490295.1:p.Met72ArgfsTer28
ENST00000636674.1:n.1621del
ENST00000636964.1:n.2047del
ENST00000637054.1:c.198+7250del ENSP00000490807.1:n.198+7250del
ENST00000637223.1:c.*233del ENSP00000490010.1:n.*233del
ENST00000637329.1:c.488del
ENST00000637450.1:c.*173del ENSP00000490204.1:n.*173del
ENST00000637494.1:c.231del ENSP00000490057.1:p.Asp77GlufsTer?
ENST00000637667.1:c.420del ENSP00000489843.1:p.Asp140GlufsTer?
ENST00000637823.1:c.344del
ENST00000637888.1:c.198+7250del ENSP00000490546.1:n.198+7250del
ENST00000638076.1:c.*122del ENSP00000490373.1:n.*122del
ENST00000638144.1:n.162del
ENST00000646164.1:c.38+7250del
ENST00000249806.9:c.519del ENSP00000249806.5:p.Asp173GlufsTer?
ENST00000538696.5:c.615del ENSP00000445770.1:p.Asp205GlufsTer?
ENST00000562767.1:c.84-13658del ENSP00000456336.1:n.84-13658del
ENST00000563917.1:n.419del
ENST00000564752.1:c.545del ENSP00000457822.1:p.Met182ArgfsTer28
ENST00000565471.5:c.84-1527del ENSP00000457384.1:n.84-1527del
ENST00000566347.5:c.330del ENSP00000457783.1:p.Asp110GlufsTer?
ENST00000567060.5:c.298-1566del ENSP00000454818.1:n.298-1566del
NM_017882.2:c.519del NP_060352.1:p.Asp173GlufsTer?
XR_931861.1:n.741del
NM_017882.3:c.519del MANE Select NP_060352.1:p.Asp173GlufsTer?