Canonical Allele Identifier: CA2840011013

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436906dup , CM000671.2:g.133436906dup	GRCh38
NC_000009.10:g.135291847dup	NCBI36
NG_011934.2:g.27568dup , LRG_544:g.27568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1386dup MANE Select	ENSP00000347927.2:p.Gly463TrpfsTer?
ENST00000355699.6:c.1386dup	ENSP00000347927.2:p.Gly463TrpfsTer?
ENST00000356589.6:c.1293dup	ENSP00000348997.2:p.Gly432TrpfsTer?
ENST00000371916.5:c.642dup	ENSP00000360984.2:p.Gly215TrpfsTer?
ENST00000371929.7:c.1386dup	ENSP00000360997.3:p.Gly463TrpfsTer?
ENST00000474918.1:c.*190dup	ENSP00000435305.1:n.*190dup
ENST00000485925.5:n.974-2460dup
ENST00000495234.5:c.*670dup	ENSP00000435274.1:n.*670dup
NM_139025.4:c.1386dup , LRG_544t1:c.1386dup	NP_620594.1:p.Gly463TrpfsTer?
NM_139026.4:c.1293dup	NP_620595.1:p.Gly432TrpfsTer?
NM_139027.4:c.1386dup	NP_620596.2:p.Gly463TrpfsTer?
NR_024514.2:n.993-2460dup
XM_011518174.1:c.996dup	XP_011516476.1:p.Gly333TrpfsTer?
XM_011518175.1:c.1386dup	XP_011516477.1:p.Gly463TrpfsTer?
XM_011518176.1:c.402dup	XP_011516478.1:p.Gly135TrpfsTer?
XM_011518177.1:c.396dup	XP_011516479.1:p.Gly133TrpfsTer?
XM_011518178.1:c.51dup	XP_011516480.1:p.Gly18TrpfsTer?
XM_011518179.1:c.172dup	XP_011516481.1:p.Trp58LeufsTer?
XM_011518180.1:c.687-7957dup	XP_011516482.1:n.687-7957dup
XM_011518176.3:c.402dup	XP_011516478.1:p.Gly135TrpfsTer?
XM_011518178.2:c.51dup	XP_011516480.1:p.Gly18TrpfsTer?
XM_017014232.1:c.1374dup	XP_016869721.1:p.Gly459TrpfsTer?
XM_017014233.1:c.996dup	XP_016869722.1:p.Gly333TrpfsTer?
XM_017014234.2:c.396dup	XP_016869723.1:p.Gly133TrpfsTer?
XM_017014235.1:c.1386dup	XP_016869724.1:p.Gly463TrpfsTer?
XR_001746171.1:n.2611dup
NM_139026.5:c.1293dup	NP_620595.1:p.Gly432TrpfsTer?
NM_139027.5:c.1386dup	NP_620596.2:p.Gly463TrpfsTer?
NM_139025.5:c.1386dup	NP_620594.1:p.Gly463TrpfsTer?
NM_139026.6:c.1293dup	NP_620595.1:p.Gly432TrpfsTer?
NM_139027.6:c.1386dup MANE Select	NP_620596.2:p.Gly463TrpfsTer?
NR_024514.3:n.995-2460dup