Canonical Allele Identifier: CA2623304599

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000811_77000812del , CM000675.2:g.77000811_77000812del GRCh38
NC_000013.10:g.77574946_77574947del , CM000675.1:g.77574946_77574947del GRCh37
NC_000013.9:g.76472947_76472948del NCBI36
NG_009064.1:g.13888_13889del , LRG_692:g.13888_13889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.919_920del (CLN5) MANE Select ENSP00000366673.5:p.Leu309AlafsTer4
ENST00000616833.6:c.*361_*362del (CLN5) ENSP00000479547.3:n.*361_*362del
ENST00000635838.1:c.174+4684_174+4685del
ENST00000635905.1:n.566+4684_566+4685del (CLN5)
ENST00000635915.1:c.917_918del (CLN5)
ENST00000636183.2:c.919_920del (CLN5) ENSP00000490181.2:p.Leu309AlafsTer4
ENST00000636525.2:c.565+4684_565+4685del (CLN5) ENSP00000490078.2:n.565+4684_565+4685del
ENST00000636681.1:c.*610_*611del (CLN5) ENSP00000489922.1:n.*610_*611del
ENST00000636705.1:c.755_756del (CLN5)
ENST00000636767.2:c.565+4684_565+4685del (CLN5) ENSP00000489855.2:n.565+4684_565+4685del
ENST00000636780.2:c.*368_*369del (CLN5) ENSP00000489809.2:n.*368_*369del
ENST00000637192.1:c.213+4684_213+4685del
ENST00000637278.1:n.1245_1246del (CLN5)
ENST00000637397.2:c.565+4684_565+4685del (CLN5) ENSP00000490422.2:n.565+4684_565+4685del
ENST00000638101.1:c.169+4684_169+4685del ENSP00000490535.1:n.169+4684_169+4685del
ENST00000638147.2:c.565+4684_565+4685del ENSP00000490953.2:n.565+4684_565+4685del
ENST00000377453.7:c.1066_1067del (CLN5) ENSP00000366673.3:p.Leu358AlafsTer4
ENST00000477982.2:n.1498_1499del (FBXL3)
ENST00000485797.2:n.174-7860_174-7859del (FBXL3)
ENST00000616833.4:c.919_920del (CLN5) ENSP00000479547.1:p.Leu309AlafsTer4
NM_006493.2:c.1066_1067del , LRG_692t1:c.1066_1067del (CLN5) NP_006484.1:p.Leu358AlafsTer4
XM_011534917.1:c.*368_*369del (CLN5) XP_011533219.1:n.*368_*369del
NM_001366624.1:c.*368_*369del (CLN5) NP_001353553.1:n.*368_*369del
NM_006493.3:c.919_920del (CLN5) NP_006484.2:p.Leu309AlafsTer4
XM_017020538.2:c.644-7860_644-7859del (FBXL3) XP_016876027.1:n.644-7860_644-7859del
NM_001366624.2:c.*368_*369del (CLN5) NP_001353553.1:n.*368_*369del
NM_006493.4:c.919_920del (CLN5) MANE Select NP_006484.2:p.Leu309AlafsTer4