Canonical Allele Identifier: CA1882677259
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133448618C= , CM000671.2:g.133448618C= GRCh38
NC_000009.10:g.135303560C= NCBI36
NG_011934.2:g.39280C= , LRG_544:g.39280C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.2751C= MANE Select ENSP00000347927.2:p.Phe917=
ENST00000355699.6:c.2751C= ENSP00000347927.2:p.Phe917=
ENST00000356589.6:c.2658C= ENSP00000348997.2:p.Phe886=
ENST00000371916.5:c.*220C= ENSP00000360984.2:n.*220C=
ENST00000371929.7:c.2751C= ENSP00000360997.3:p.Phe917=
ENST00000485925.5:n.1567C=
ENST00000495234.5:c.*1583C= ENSP00000435274.1:n.*1583C=
NM_139025.4:c.2751C= , LRG_544t1:c.2751C= NP_620594.1:p.Phe917=
NM_139026.4:c.2658C= NP_620595.1:p.Phe886=
NM_139027.4:c.2751C= NP_620596.2:p.Phe917=
NR_024514.2:n.1586C=
XM_011518174.1:c.2361C= XP_011516476.1:p.Phe787=
XM_011518175.1:c.2751C= XP_011516477.1:p.Phe917=
XM_011518176.1:c.1767C= XP_011516478.1:p.Phe589=
XM_011518177.1:c.1761C= XP_011516479.1:p.Phe587=
XM_011518178.1:c.1416C= XP_011516480.1:p.Phe472=
XM_011518179.1:c.1416C= XP_011516481.1:p.Phe472=
XM_011518180.1:c.1017C= XP_011516482.1:p.Phe339=
XM_011518176.3:c.1767C= XP_011516478.1:p.Phe589=
XM_011518178.2:c.1416C= XP_011516480.1:p.Phe472=
XM_017014232.1:c.2739C= XP_016869721.1:p.Phe913=
XM_017014233.1:c.2361C= XP_016869722.1:p.Phe787=
XM_017014234.2:c.1761C= XP_016869723.1:p.Phe587=
XR_001746171.1:n.3524C=
NM_139026.5:c.2658C= NP_620595.1:p.Phe886=
NM_139027.5:c.2751C= NP_620596.2:p.Phe917=
NM_139025.5:c.2751C= NP_620594.1:p.Phe917=
NM_139026.6:c.2658C= NP_620595.1:p.Phe886=
NM_139027.6:c.2751C= MANE Select NP_620596.2:p.Phe917=
NR_024514.3:n.1588C=