Canonical Allele Identifier: CA375389504

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133433478G>T , CM000671.2:g.133433478G>T	GRCh38
NC_000009.10:g.135288419G>T	NCBI36
NG_011934.2:g.24140G>T , LRG_544:g.24140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1193G>T MANE Select	ENSP00000347927.2:p.Arg398Leu
ENST00000355699.6:c.1193G>T	ENSP00000347927.2:p.Arg398Leu
ENST00000356589.6:c.1100G>T	ENSP00000348997.2:p.Arg367Leu
ENST00000371916.5:c.449G>T	ENSP00000360984.2:p.Arg150Leu
ENST00000371929.7:c.1193G>T	ENSP00000360997.3:p.Arg398Leu
ENST00000474918.1:c.*61G>T	ENSP00000435305.1:n.*61G>T
ENST00000485925.5:n.973+786G>T
ENST00000495234.5:c.*477G>T	ENSP00000435274.1:n.*477G>T
NM_139025.4:c.1193G>T , LRG_544t1:c.1193G>T	NP_620594.1:p.Arg398Leu
NM_139026.4:c.1100G>T	NP_620595.1:p.Arg367Leu
NM_139027.4:c.1193G>T	NP_620596.2:p.Arg398Leu
NR_024514.2:n.992+786G>T
XM_011518174.1:c.803G>T	XP_011516476.1:p.Arg268Leu
XM_011518175.1:c.1193G>T	XP_011516477.1:p.Arg398Leu
XM_011518176.1:c.209G>T	XP_011516478.1:p.Arg70Leu
XM_011518177.1:c.203G>T	XP_011516479.1:p.Arg68Leu
XM_011518178.1:c.-79G>T	XP_011516480.1:n.-79G>T
XM_011518179.1:c.43G>T	XP_011516481.1:p.Ala15Ser
XM_011518180.1:c.686+7133G>T	XP_011516482.1:n.686+7133G>T
XM_011518176.3:c.209G>T	XP_011516478.1:p.Arg70Leu
XM_011518178.2:c.-79G>T	XP_011516480.1:n.-79G>T
XM_017014232.1:c.1181G>T	XP_016869721.1:p.Arg394Leu
XM_017014233.1:c.803G>T	XP_016869722.1:p.Arg268Leu
XM_017014234.2:c.203G>T	XP_016869723.1:p.Arg68Leu
XM_017014235.1:c.1193G>T	XP_016869724.1:p.Arg398Leu
XR_001746171.1:n.2418G>T
NM_139026.5:c.1100G>T	NP_620595.1:p.Arg367Leu
NM_139027.5:c.1193G>T	NP_620596.2:p.Arg398Leu
NM_139025.5:c.1193G>T	NP_620594.1:p.Arg398Leu
NM_139026.6:c.1100G>T	NP_620595.1:p.Arg367Leu
NM_139027.6:c.1193G>T MANE Select	NP_620596.2:p.Arg398Leu
NR_024514.3:n.994+786G>T