Canonical Allele Identifier: CA2575430191

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000760dup , CM000675.2:g.77000760dup GRCh38
NC_000013.10:g.77574895dup , CM000675.1:g.77574895dup GRCh37
NC_000013.9:g.76472896dup NCBI36
NG_009064.1:g.13837dup , LRG_692:g.13837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.868dup (CLN5) MANE Select ENSP00000366673.5:p.Arg290LysfsTer13
ENST00000616833.6:c.*310dup (CLN5) ENSP00000479547.3:n.*310dup
ENST00000635838.1:c.174+4633dup
ENST00000635905.1:n.566+4633dup (CLN5)
ENST00000635915.1:c.866dup (CLN5)
ENST00000636183.2:c.868dup (CLN5) ENSP00000490181.2:p.Arg290LysfsTer13
ENST00000636525.2:c.565+4633dup (CLN5) ENSP00000490078.2:n.565+4633dup
ENST00000636681.1:c.*559dup (CLN5) ENSP00000489922.1:n.*559dup
ENST00000636705.1:c.704dup (CLN5)
ENST00000636767.2:c.565+4633dup (CLN5) ENSP00000489855.2:n.565+4633dup
ENST00000636780.2:c.*317dup (CLN5) ENSP00000489809.2:n.*317dup
ENST00000637192.1:c.213+4633dup
ENST00000637278.1:n.1194dup (CLN5)
ENST00000637397.2:c.565+4633dup (CLN5) ENSP00000490422.2:n.565+4633dup
ENST00000638101.1:c.169+4633dup ENSP00000490535.1:n.169+4633dup
ENST00000638147.2:c.565+4633dup ENSP00000490953.2:n.565+4633dup
ENST00000377453.7:c.1015dup (CLN5) ENSP00000366673.3:p.Arg339LysfsTer13
ENST00000477982.2:n.1553dup (FBXL3)
ENST00000485797.2:n.174-7805dup (FBXL3)
ENST00000616833.4:c.868dup (CLN5) ENSP00000479547.1:p.Arg290LysfsTer13
NM_006493.2:c.1015dup , LRG_692t1:c.1015dup (CLN5) NP_006484.1:p.Arg339LysfsTer13
XM_011534917.1:c.*317dup (CLN5) XP_011533219.1:n.*317dup
NM_001366624.1:c.*317dup (CLN5) NP_001353553.1:n.*317dup
NM_006493.3:c.868dup (CLN5) NP_006484.2:p.Arg290LysfsTer13
XM_017020538.2:c.644-7805dup (FBXL3) XP_016876027.1:n.644-7805dup
NM_001366624.2:c.*317dup (CLN5) NP_001353553.1:n.*317dup
NM_006493.4:c.868dup (CLN5) MANE Select NP_006484.2:p.Arg290LysfsTer13