Canonical Allele Identifier: CA1882678719

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443529G= , CM000671.2:g.133443529G=	GRCh38
NC_000009.10:g.135298471G=	NCBI36
NG_011934.2:g.34191G= , LRG_544:g.34191G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2388G= MANE Select	ENSP00000347927.2:p.Leu796=
ENST00000355699.6:c.2388G=	ENSP00000347927.2:p.Leu796=
ENST00000356589.6:c.2295G=	ENSP00000348997.2:p.Leu765=
ENST00000371916.5:c.1225-1334G=	ENSP00000360984.2:n.1225-1334G=
ENST00000371929.7:c.2388G=	ENSP00000360997.3:p.Leu796=
ENST00000474918.1:c.*926G=	ENSP00000435305.1:n.*926G=
ENST00000485925.5:n.1237-1334G=
ENST00000495234.5:c.*1253-1334G=	ENSP00000435274.1:n.*1253-1334G=
NM_139025.4:c.2388G= , LRG_544t1:c.2388G=	NP_620594.1:p.Leu796=
NM_139026.4:c.2295G=	NP_620595.1:p.Leu765=
NM_139027.4:c.2388G=	NP_620596.2:p.Leu796=
NR_024514.2:n.1256-1334G=
XM_011518174.1:c.1998G=	XP_011516476.1:p.Leu666=
XM_011518175.1:c.2388G=	XP_011516477.1:p.Leu796=
XM_011518176.1:c.1404G=	XP_011516478.1:p.Leu468=
XM_011518177.1:c.1398G=	XP_011516479.1:p.Leu466=
XM_011518178.1:c.1053G=	XP_011516480.1:p.Leu351=
XM_011518179.1:c.1053G=	XP_011516481.1:p.Leu351=
XM_011518180.1:c.687-1334G=	XP_011516482.1:n.687-1334G=
XM_011518176.3:c.1404G=	XP_011516478.1:p.Leu468=
XM_011518178.2:c.1053G=	XP_011516480.1:p.Leu351=
XM_017014232.1:c.2376G=	XP_016869721.1:p.Leu792=
XM_017014233.1:c.1998G=	XP_016869722.1:p.Leu666=
XM_017014234.2:c.1398G=	XP_016869723.1:p.Leu466=
XM_017014235.1:c.2234+786G=	XP_016869724.1:n.2234+786G=
XR_001746171.1:n.3194-1334G=
NM_139026.5:c.2295G=	NP_620595.1:p.Leu765=
NM_139027.5:c.2388G=	NP_620596.2:p.Leu796=
NM_139025.5:c.2388G=	NP_620594.1:p.Leu796=
NM_139026.6:c.2295G=	NP_620595.1:p.Leu765=
NM_139027.6:c.2388G= MANE Select	NP_620596.2:p.Leu796=
NR_024514.3:n.1258-1334G=