Canonical Allele Identifier: CA313930

Linked Data

dbSNP Id: rs796052345

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000959_77000960del , CM000675.2:g.77000959_77000960del GRCh38
NC_000013.10:g.77575094_77575095del , CM000675.1:g.77575094_77575095del GRCh37
NC_000013.9:g.76473095_76473096del NCBI36
NG_009064.1:g.14036_14037del , LRG_692:g.14036_14037del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.1067_1068del (CLN5) MANE Select ENSP00000366673.5:p.Ser356TrpfsTer?
ENST00000616833.6:c.*509_*510del (CLN5) ENSP00000479547.3:n.*509_*510del
ENST00000635838.1:c.174+4832_174+4833del
ENST00000635905.1:n.566+4832_566+4833del (CLN5)
ENST00000635915.1:c.1065_1066del (CLN5)
ENST00000636183.2:c.1067_1068del (CLN5) ENSP00000490181.2:p.Ser356TrpfsTer?
ENST00000636525.2:c.565+4832_565+4833del (CLN5) ENSP00000490078.2:n.565+4832_565+4833del
ENST00000636681.1:c.*758_*759del (CLN5) ENSP00000489922.1:n.*758_*759del
ENST00000636705.1:c.903_904del (CLN5)
ENST00000636767.2:c.565+4832_565+4833del (CLN5) ENSP00000489855.2:n.565+4832_565+4833del
ENST00000636780.2:c.*516_*517del (CLN5) ENSP00000489809.2:n.*516_*517del
ENST00000637192.1:c.213+4832_213+4833del
ENST00000637278.1:n.1393_1394del (CLN5)
ENST00000637397.2:c.565+4832_565+4833del (CLN5) ENSP00000490422.2:n.565+4832_565+4833del
ENST00000638101.1:c.169+4832_169+4833del ENSP00000490535.1:n.169+4832_169+4833del
ENST00000638147.2:c.565+4832_565+4833del ENSP00000490953.2:n.565+4832_565+4833del
ENST00000377453.7:c.1214_1215del (CLN5) ENSP00000366673.3:p.Ser405TrpfsTer?
ENST00000477982.2:n.1353_1354del (FBXL3)
ENST00000485797.2:n.174-8005_174-8004del (FBXL3)
ENST00000616833.4:c.1067_1068del (CLN5) ENSP00000479547.1:p.Ser356TrpfsTer?
NM_006493.2:c.1214_1215del , LRG_692t1:c.1214_1215del (CLN5) NP_006484.1:p.Ser405TrpfsTer?
NM_001366624.1:c.*516_*517del (CLN5) NP_001353553.1:n.*516_*517del
NM_006493.3:c.1067_1068del (CLN5) NP_006484.2:p.Ser356TrpfsTer?
XM_017020538.2:c.644-8005_644-8004del (FBXL3) XP_016876027.1:n.644-8005_644-8004del
NM_001366624.2:c.*516_*517del (CLN5) NP_001353553.1:n.*516_*517del
NM_006493.4:c.1067_1068del (CLN5) MANE Select NP_006484.2:p.Ser356TrpfsTer?