Canonical Allele Identifier: CA1882678626
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133443426T= , CM000671.2:g.133443426T= GRCh38
NC_000009.10:g.135298368T= NCBI36
NG_011934.2:g.34088T= , LRG_544:g.34088T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.2285T= MANE Select ENSP00000347927.2:p.Leu762=
ENST00000355699.6:c.2285T= ENSP00000347927.2:p.Leu762=
ENST00000356589.6:c.2192T= ENSP00000348997.2:p.Leu731=
ENST00000371916.5:c.1225-1437T= ENSP00000360984.2:n.1225-1437T=
ENST00000371929.7:c.2285T= ENSP00000360997.3:p.Leu762=
ENST00000474918.1:c.*823T= ENSP00000435305.1:n.*823T=
ENST00000485925.5:n.1237-1437T=
ENST00000495234.5:c.*1253-1437T= ENSP00000435274.1:n.*1253-1437T=
NM_139025.4:c.2285T= , LRG_544t1:c.2285T= NP_620594.1:p.Leu762=
NM_139026.4:c.2192T= NP_620595.1:p.Leu731=
NM_139027.4:c.2285T= NP_620596.2:p.Leu762=
NR_024514.2:n.1256-1437T=
XM_011518174.1:c.1895T= XP_011516476.1:p.Leu632=
XM_011518175.1:c.2285T= XP_011516477.1:p.Leu762=
XM_011518176.1:c.1301T= XP_011516478.1:p.Leu434=
XM_011518177.1:c.1295T= XP_011516479.1:p.Leu432=
XM_011518178.1:c.950T= XP_011516480.1:p.Leu317=
XM_011518179.1:c.950T= XP_011516481.1:p.Leu317=
XM_011518180.1:c.687-1437T= XP_011516482.1:n.687-1437T=
XM_011518176.3:c.1301T= XP_011516478.1:p.Leu434=
XM_011518178.2:c.950T= XP_011516480.1:p.Leu317=
XM_017014232.1:c.2273T= XP_016869721.1:p.Leu758=
XM_017014233.1:c.1895T= XP_016869722.1:p.Leu632=
XM_017014234.2:c.1295T= XP_016869723.1:p.Leu432=
XM_017014235.1:c.2234+683T= XP_016869724.1:n.2234+683T=
XR_001746171.1:n.3194-1437T=
NM_139026.5:c.2192T= NP_620595.1:p.Leu731=
NM_139027.5:c.2285T= NP_620596.2:p.Leu762=
NM_139025.5:c.2285T= NP_620594.1:p.Leu762=
NM_139026.6:c.2192T= NP_620595.1:p.Leu731=
NM_139027.6:c.2285T= MANE Select NP_620596.2:p.Leu762=
NR_024514.3:n.1258-1437T=