Canonical Allele Identifier: CA2692370971
Gene: ADAMTS13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436844del , CM000671.2:g.133436844del GRCh38
NC_000009.10:g.135291785del NCBI36
NG_011934.2:g.27506del , LRG_544:g.27506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1324del MANE Select ENSP00000347927.2:p.Gln442SerfsTer?
ENST00000355699.6:c.1324del ENSP00000347927.2:p.Gln442SerfsTer?
ENST00000356589.6:c.1231del ENSP00000348997.2:p.Gln411SerfsTer?
ENST00000371916.5:c.580del ENSP00000360984.2:p.Gln194SerfsTer?
ENST00000371929.7:c.1324del ENSP00000360997.3:p.Gln442SerfsTer?
ENST00000474918.1:c.*128del ENSP00000435305.1:n.*128del
ENST00000485925.5:n.974-2522del
ENST00000495234.5:c.*608del ENSP00000435274.1:n.*608del
NM_139025.4:c.1324del , LRG_544t1:c.1324del NP_620594.1:p.Gln442SerfsTer?
NM_139026.4:c.1231del NP_620595.1:p.Gln411SerfsTer?
NM_139027.4:c.1324del NP_620596.2:p.Gln442SerfsTer?
NR_024514.2:n.993-2522del
XM_011518174.1:c.934del XP_011516476.1:p.Gln312SerfsTer?
XM_011518175.1:c.1324del XP_011516477.1:p.Gln442SerfsTer?
XM_011518176.1:c.340del XP_011516478.1:p.Gln114SerfsTer?
XM_011518177.1:c.334del XP_011516479.1:p.Gln112SerfsTer?
XM_011518178.1:c.-12del XP_011516480.1:n.-12del
XM_011518179.1:c.110del XP_011516481.1:p.Pro37GlnfsTer?
XM_011518180.1:c.687-8019del XP_011516482.1:n.687-8019del
XM_011518176.3:c.340del XP_011516478.1:p.Gln114SerfsTer?
XM_011518178.2:c.-12del XP_011516480.1:n.-12del
XM_017014232.1:c.1312del XP_016869721.1:p.Gln438SerfsTer?
XM_017014233.1:c.934del XP_016869722.1:p.Gln312SerfsTer?
XM_017014234.2:c.334del XP_016869723.1:p.Gln112SerfsTer?
XM_017014235.1:c.1324del XP_016869724.1:p.Gln442SerfsTer?
XR_001746171.1:n.2549del
NM_139026.5:c.1231del NP_620595.1:p.Gln411SerfsTer?
NM_139027.5:c.1324del NP_620596.2:p.Gln442SerfsTer?
NM_139025.5:c.1324del NP_620594.1:p.Gln442SerfsTer?
NM_139026.6:c.1231del NP_620595.1:p.Gln411SerfsTer?
NM_139027.6:c.1324del MANE Select NP_620596.2:p.Gln442SerfsTer?
NR_024514.3:n.995-2522del