Canonical Allele Identifier: CA1882673119

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436856A= , CM000671.2:g.133436856A=	GRCh38
NC_000009.10:g.135291797A=	NCBI36
NG_011934.2:g.27518A= , LRG_544:g.27518A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1336A= MANE Select	ENSP00000347927.2:p.Met446=
ENST00000355699.6:c.1336A=	ENSP00000347927.2:p.Met446=
ENST00000356589.6:c.1243A=	ENSP00000348997.2:p.Met415=
ENST00000371916.5:c.592A=	ENSP00000360984.2:p.Met198=
ENST00000371929.7:c.1336A=	ENSP00000360997.3:p.Met446=
ENST00000474918.1:c.*140A=	ENSP00000435305.1:n.*140A=
ENST00000485925.5:n.974-2510A=
ENST00000495234.5:c.*620A=	ENSP00000435274.1:n.*620A=
NM_139025.4:c.1336A= , LRG_544t1:c.1336A=	NP_620594.1:p.Met446=
NM_139026.4:c.1243A=	NP_620595.1:p.Met415=
NM_139027.4:c.1336A=	NP_620596.2:p.Met446=
NR_024514.2:n.993-2510A=
XM_011518174.1:c.946A=	XP_011516476.1:p.Met316=
XM_011518175.1:c.1336A=	XP_011516477.1:p.Met446=
XM_011518176.1:c.352A=	XP_011516478.1:p.Met118=
XM_011518177.1:c.346A=	XP_011516479.1:p.Met116=
XM_011518178.1:c.1A=	XP_011516480.1:p.Met1=
XM_011518179.1:c.122A=	XP_011516481.1:p.His41=
XM_011518180.1:c.687-8007A=	XP_011516482.1:n.687-8007A=
XM_011518176.3:c.352A=	XP_011516478.1:p.Met118=
XM_011518178.2:c.1A=	XP_011516480.1:p.Met1=
XM_017014232.1:c.1324A=	XP_016869721.1:p.Met442=
XM_017014233.1:c.946A=	XP_016869722.1:p.Met316=
XM_017014234.2:c.346A=	XP_016869723.1:p.Met116=
XM_017014235.1:c.1336A=	XP_016869724.1:p.Met446=
XR_001746171.1:n.2561A=
NM_139026.5:c.1243A=	NP_620595.1:p.Met415=
NM_139027.5:c.1336A=	NP_620596.2:p.Met446=
NM_139025.5:c.1336A=	NP_620594.1:p.Met446=
NM_139026.6:c.1243A=	NP_620595.1:p.Met415=
NM_139027.6:c.1336A= MANE Select	NP_620596.2:p.Met446=
NR_024514.3:n.995-2510A=