Canonical Allele Identifier: CA2839347039

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448683dup , CM000671.2:g.133448683dup	GRCh38
NC_000009.10:g.135303625dup	NCBI36
NG_011934.2:g.39345dup , LRG_544:g.39345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2816dup MANE Select	ENSP00000347927.2:p.Gly940TrpfsTer?
ENST00000355699.6:c.2816dup	ENSP00000347927.2:p.Gly940TrpfsTer?
ENST00000356589.6:c.2723dup	ENSP00000348997.2:p.Gly909TrpfsTer?
ENST00000371916.5:c.*285dup	ENSP00000360984.2:n.*285dup
ENST00000371929.7:c.2816dup	ENSP00000360997.3:p.Gly940TrpfsTer?
ENST00000485925.5:n.1632dup
ENST00000495234.5:c.*1648dup	ENSP00000435274.1:n.*1648dup
NM_139025.4:c.2816dup , LRG_544t1:c.2816dup	NP_620594.1:p.Gly940TrpfsTer?
NM_139026.4:c.2723dup	NP_620595.1:p.Gly909TrpfsTer?
NM_139027.4:c.2816dup	NP_620596.2:p.Gly940TrpfsTer?
NR_024514.2:n.1651dup
XM_011518174.1:c.2426dup	XP_011516476.1:p.Gly810TrpfsTer?
XM_011518175.1:c.2816dup	XP_011516477.1:p.Gly940TrpfsTer?
XM_011518176.1:c.1832dup	XP_011516478.1:p.Gly612TrpfsTer?
XM_011518177.1:c.1826dup	XP_011516479.1:p.Gly610TrpfsTer?
XM_011518178.1:c.1481dup	XP_011516480.1:p.Gly495TrpfsTer?
XM_011518179.1:c.1481dup	XP_011516481.1:p.Gly495TrpfsTer?
XM_011518180.1:c.1082dup	XP_011516482.1:p.Gly362TrpfsTer?
XM_011518176.3:c.1832dup	XP_011516478.1:p.Gly612TrpfsTer?
XM_011518178.2:c.1481dup	XP_011516480.1:p.Gly495TrpfsTer?
XM_017014232.1:c.2804dup	XP_016869721.1:p.Gly936TrpfsTer?
XM_017014233.1:c.2426dup	XP_016869722.1:p.Gly810TrpfsTer?
XM_017014234.2:c.1826dup	XP_016869723.1:p.Gly610TrpfsTer?
XR_001746171.1:n.3589dup
NM_139026.5:c.2723dup	NP_620595.1:p.Gly909TrpfsTer?
NM_139027.5:c.2816dup	NP_620596.2:p.Gly940TrpfsTer?
NM_139025.5:c.2816dup	NP_620594.1:p.Gly940TrpfsTer?
NM_139026.6:c.2723dup	NP_620595.1:p.Gly909TrpfsTer?
NM_139027.6:c.2816dup MANE Select	NP_620596.2:p.Gly940TrpfsTer?
NR_024514.3:n.1653dup