Canonical Allele Identifier: CA1882678631

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443430G= , CM000671.2:g.133443430G=	GRCh38
NC_000009.10:g.135298372G=	NCBI36
NG_011934.2:g.34092G= , LRG_544:g.34092G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2289G= MANE Select	ENSP00000347927.2:p.Arg763=
ENST00000355699.6:c.2289G=	ENSP00000347927.2:p.Arg763=
ENST00000356589.6:c.2196G=	ENSP00000348997.2:p.Arg732=
ENST00000371916.5:c.1225-1433G=	ENSP00000360984.2:n.1225-1433G=
ENST00000371929.7:c.2289G=	ENSP00000360997.3:p.Arg763=
ENST00000474918.1:c.*827G=	ENSP00000435305.1:n.*827G=
ENST00000485925.5:n.1237-1433G=
ENST00000495234.5:c.*1253-1433G=	ENSP00000435274.1:n.*1253-1433G=
NM_139025.4:c.2289G= , LRG_544t1:c.2289G=	NP_620594.1:p.Arg763=
NM_139026.4:c.2196G=	NP_620595.1:p.Arg732=
NM_139027.4:c.2289G=	NP_620596.2:p.Arg763=
NR_024514.2:n.1256-1433G=
XM_011518174.1:c.1899G=	XP_011516476.1:p.Arg633=
XM_011518175.1:c.2289G=	XP_011516477.1:p.Arg763=
XM_011518176.1:c.1305G=	XP_011516478.1:p.Arg435=
XM_011518177.1:c.1299G=	XP_011516479.1:p.Arg433=
XM_011518178.1:c.954G=	XP_011516480.1:p.Arg318=
XM_011518179.1:c.954G=	XP_011516481.1:p.Arg318=
XM_011518180.1:c.687-1433G=	XP_011516482.1:n.687-1433G=
XM_011518176.3:c.1305G=	XP_011516478.1:p.Arg435=
XM_011518178.2:c.954G=	XP_011516480.1:p.Arg318=
XM_017014232.1:c.2277G=	XP_016869721.1:p.Arg759=
XM_017014233.1:c.1899G=	XP_016869722.1:p.Arg633=
XM_017014234.2:c.1299G=	XP_016869723.1:p.Arg433=
XM_017014235.1:c.2234+687G=	XP_016869724.1:n.2234+687G=
XR_001746171.1:n.3194-1433G=
NM_139026.5:c.2196G=	NP_620595.1:p.Arg732=
NM_139027.5:c.2289G=	NP_620596.2:p.Arg763=
NM_139025.5:c.2289G=	NP_620594.1:p.Arg763=
NM_139026.6:c.2196G=	NP_620595.1:p.Arg732=
NM_139027.6:c.2289G= MANE Select	NP_620596.2:p.Arg763=
NR_024514.3:n.1258-1433G=