Canonical Allele Identifier: CA117760
Gene: ADAMTS13 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456597dup , CM000671.2:g.133456597dup GRCh38
NC_000009.10:g.135311540dup NCBI36
NG_011934.2:g.47259dup , LRG_544:g.47259dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3602dup MANE Select ENSP00000347927.2:p.Leu1202ValfsTer?
ENST00000355699.6:c.3602dup ENSP00000347927.2:p.Leu1202ValfsTer?
ENST00000356589.6:c.3509dup ENSP00000348997.2:p.Leu1171ValfsTer?
ENST00000371910.1:c.158dup ENSP00000360978.1:p.Leu54ValfsTer?
ENST00000371916.5:c.*1071dup ENSP00000360984.2:n.*1071dup
ENST00000371929.7:c.3770dup ENSP00000360997.3:p.Leu1258ValfsTer?
ENST00000485925.5:n.2418dup
NM_139025.4:c.3770dup , LRG_544t1:c.3770dup NP_620594.1:p.Leu1258ValfsTer?
NM_139026.4:c.3509dup NP_620595.1:p.Leu1171ValfsTer?
NM_139027.4:c.3602dup NP_620596.2:p.Leu1202ValfsTer?
NR_024514.2:n.2437dup
XM_011518174.1:c.3380dup XP_011516476.1:p.Leu1128ValfsTer?
XM_011518176.1:c.2786dup XP_011516478.1:p.Leu930ValfsTer?
XM_011518177.1:c.2780dup XP_011516479.1:p.Leu928ValfsTer?
XM_011518178.1:c.2435dup XP_011516480.1:p.Leu813ValfsTer?
XM_011518179.1:c.2435dup XP_011516481.1:p.Leu813ValfsTer?
XM_011518180.1:c.2036dup XP_011516482.1:p.Leu680ValfsTer?
XM_011518176.3:c.2786dup XP_011516478.1:p.Leu930ValfsTer?
XM_011518178.2:c.2435dup XP_011516480.1:p.Leu813ValfsTer?
XM_017014232.1:c.3758dup XP_016869721.1:p.Leu1254ValfsTer?
XM_017014233.1:c.3380dup XP_016869722.1:p.Leu1128ValfsTer?
XM_017014234.2:c.2780dup XP_016869723.1:p.Leu928ValfsTer?
NM_139026.5:c.3509dup NP_620595.1:p.Leu1171ValfsTer?
NM_139027.5:c.3602dup NP_620596.2:p.Leu1202ValfsTer?
NM_139025.5:c.3770dup NP_620594.1:p.Leu1258ValfsTer?
NM_139026.6:c.3509dup NP_620595.1:p.Leu1171ValfsTer?
NM_139027.6:c.3602dup MANE Select NP_620596.2:p.Leu1202ValfsTer?
NR_024514.3:n.2439dup