Canonical Allele Identifier: CA117790
Gene: ADAMTS13 HGNC NCBI

Linked Data

ClinVar Variation Id: 5821
ClinVar RCV Id: RCV000006177
dbSNP Id: rs387906346

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133449852_133449857del , CM000671.2:g.133449852_133449857del GRCh38
NC_000009.10:g.135304794_135304799del NCBI36
NG_011934.2:g.40514_40519del , LRG_544:g.40514_40519del

Transcript Alleles

HGVS Amino-acid change
ENST00000355699.7:c.2931_2936del MANE Select ENSP00000347927.2:p.Cys977_Arg979delinsTr...
ENST00000355699.6:c.2931_2936del ENSP00000347927.2:p.Cys977_Arg979delinsTr...
ENST00000356589.6:c.2838_2843del ENSP00000348997.2:p.Cys946_Arg948delinsTr...
ENST00000371916.5:c.*400_*405del ENSP00000360984.2:n.*400_*405del
ENST00000371929.7:c.2931_2936del ENSP00000360997.3:p.Cys977_Arg979delinsTr...
ENST00000485925.5:n.1747_1752del
ENST00000495234.5:c.*1763_*1768del ENSP00000435274.1:n.*1763_*1768del
NM_139025.4:c.2931_2936del , LRG_544t1:c.2931_2936del NP_620594.1:p.Cys977_Arg979delinsTrp
NM_139026.4:c.2838_2843del NP_620595.1:p.Cys946_Arg948delinsTrp
NM_139027.4:c.2931_2936del NP_620596.2:p.Cys977_Arg979delinsTrp
NR_024514.2:n.1766_1771del
XM_011518174.1:c.2541_2546del XP_011516476.1:p.Cys847_Arg849delinsTrp
XM_011518175.1:c.2931_2936del XP_011516477.1:p.Cys977_Arg979delinsTrp
XM_011518176.1:c.1947_1952del XP_011516478.1:p.Cys649_Arg651delinsTrp
XM_011518177.1:c.1941_1946del XP_011516479.1:p.Cys647_Arg649delinsTrp
XM_011518178.1:c.1596_1601del XP_011516480.1:p.Cys532_Arg534delinsTrp
XM_011518179.1:c.1596_1601del XP_011516481.1:p.Cys532_Arg534delinsTrp
XM_011518180.1:c.1197_1202del XP_011516482.1:p.Cys399_Arg401delinsTrp
XM_011518176.3:c.1947_1952del XP_011516478.1:p.Cys649_Arg651delinsTrp
XM_011518178.2:c.1596_1601del XP_011516480.1:p.Cys532_Arg534delinsTrp
XM_017014232.1:c.2919_2924del XP_016869721.1:p.Cys973_Arg975delinsTrp
XM_017014233.1:c.2541_2546del XP_016869722.1:p.Cys847_Arg849delinsTrp
XM_017014234.2:c.1941_1946del XP_016869723.1:p.Cys647_Arg649delinsTrp
XR_001746171.1:n.3704_3709del
NM_139026.5:c.2838_2843del NP_620595.1:p.Cys946_Arg948delinsTrp
NM_139027.5:c.2931_2936del NP_620596.2:p.Cys977_Arg979delinsTrp
NM_139025.5:c.2931_2936del NP_620594.1:p.Cys977_Arg979delinsTrp
NM_139026.6:c.2838_2843del NP_620595.1:p.Cys946_Arg948delinsTrp
NM_139027.6:c.2931_2936del MANE Select NP_620596.2:p.Cys977_Arg979delinsTrp
NR_024514.3:n.1768_1773del