Canonical Allele Identifier: CA117783
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133439443_133439444del , CM000671.2:g.133439443_133439444del GRCh38
NC_000009.10:g.135294385_135294386del NCBI36
NG_011934.2:g.30105_30106del , LRG_544:g.30105_30106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1783_1784del MANE Select ENSP00000347927.2:p.Leu595GlyfsTer19
ENST00000355699.6:c.1783_1784del ENSP00000347927.2:p.Leu595GlyfsTer19
ENST00000356589.6:c.1690_1691del ENSP00000348997.2:p.Leu564GlyfsTer19
ENST00000371916.5:c.1039_1040del ENSP00000360984.2:p.Leu347GlyfsTer19
ENST00000371929.7:c.1783_1784del ENSP00000360997.3:p.Leu595GlyfsTer19
ENST00000474918.1:c.*587_*588del ENSP00000435305.1:n.*587_*588del
ENST00000485925.5:n.1051_1052del
ENST00000495234.5:c.*1067_*1068del ENSP00000435274.1:n.*1067_*1068del
NM_139025.4:c.1783_1784del , LRG_544t1:c.1783_1784del NP_620594.1:p.Leu595GlyfsTer19
NM_139026.4:c.1690_1691del NP_620595.1:p.Leu564GlyfsTer19
NM_139027.4:c.1783_1784del NP_620596.2:p.Leu595GlyfsTer19
NR_024514.2:n.1070_1071del
XM_011518174.1:c.1393_1394del XP_011516476.1:p.Leu465GlyfsTer19
XM_011518175.1:c.1783_1784del XP_011516477.1:p.Leu595GlyfsTer19
XM_011518176.1:c.799_800del XP_011516478.1:p.Leu267GlyfsTer19
XM_011518177.1:c.793_794del XP_011516479.1:p.Leu265GlyfsTer19
XM_011518178.1:c.448_449del XP_011516480.1:p.Leu150GlyfsTer19
XM_011518179.1:c.448_449del XP_011516481.1:p.Leu150GlyfsTer19
XM_011518180.1:c.687-5420_687-5419del XP_011516482.1:n.687-5420_687-5419del
XM_011518176.3:c.799_800del XP_011516478.1:p.Leu267GlyfsTer19
XM_011518178.2:c.448_449del XP_011516480.1:p.Leu150GlyfsTer19
XM_017014232.1:c.1771_1772del XP_016869721.1:p.Leu591GlyfsTer19
XM_017014233.1:c.1393_1394del XP_016869722.1:p.Leu465GlyfsTer19
XM_017014234.2:c.793_794del XP_016869723.1:p.Leu265GlyfsTer19
XM_017014235.1:c.1783_1784del XP_016869724.1:p.Leu595GlyfsTer19
XR_001746171.1:n.3008_3009del
NM_139026.5:c.1690_1691del NP_620595.1:p.Leu564GlyfsTer19
NM_139027.5:c.1783_1784del NP_620596.2:p.Leu595GlyfsTer19
NM_139025.5:c.1783_1784del NP_620594.1:p.Leu595GlyfsTer19
NM_139026.6:c.1690_1691del NP_620595.1:p.Leu564GlyfsTer19
NM_139027.6:c.1783_1784del MANE Select NP_620596.2:p.Leu595GlyfsTer19
NR_024514.3:n.1072_1073del