Canonical Allele Identifier: CA1882673172

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436934G= , CM000671.2:g.133436934G=	GRCh38
NC_000009.10:g.135291875G=	NCBI36
NG_011934.2:g.27596G= , LRG_544:g.27596G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1414G= MANE Select	ENSP00000347927.2:p.Ala472=
ENST00000355699.6:c.1414G=	ENSP00000347927.2:p.Ala472=
ENST00000356589.6:c.1321G=	ENSP00000348997.2:p.Ala441=
ENST00000371916.5:c.670G=	ENSP00000360984.2:p.Ala224=
ENST00000371929.7:c.1414G=	ENSP00000360997.3:p.Ala472=
ENST00000474918.1:c.*218G=	ENSP00000435305.1:n.*218G=
ENST00000485925.5:n.974-2432G=
ENST00000495234.5:c.*698G=	ENSP00000435274.1:n.*698G=
NM_139025.4:c.1414G= , LRG_544t1:c.1414G=	NP_620594.1:p.Ala472=
NM_139026.4:c.1321G=	NP_620595.1:p.Ala441=
NM_139027.4:c.1414G=	NP_620596.2:p.Ala472=
NR_024514.2:n.993-2432G=
XM_011518174.1:c.1024G=	XP_011516476.1:p.Ala342=
XM_011518175.1:c.1414G=	XP_011516477.1:p.Ala472=
XM_011518176.1:c.430G=	XP_011516478.1:p.Ala144=
XM_011518177.1:c.424G=	XP_011516479.1:p.Ala142=
XM_011518178.1:c.79G=	XP_011516480.1:p.Ala27=
XM_011518179.1:c.200G=	XP_011516481.1:p.Cys67=
XM_011518180.1:c.687-7929G=	XP_011516482.1:n.687-7929G=
XM_011518176.3:c.430G=	XP_011516478.1:p.Ala144=
XM_011518178.2:c.79G=	XP_011516480.1:p.Ala27=
XM_017014232.1:c.1402G=	XP_016869721.1:p.Ala468=
XM_017014233.1:c.1024G=	XP_016869722.1:p.Ala342=
XM_017014234.2:c.424G=	XP_016869723.1:p.Ala142=
XM_017014235.1:c.1414G=	XP_016869724.1:p.Ala472=
XR_001746171.1:n.2639G=
NM_139026.5:c.1321G=	NP_620595.1:p.Ala441=
NM_139027.5:c.1414G=	NP_620596.2:p.Ala472=
NM_139025.5:c.1414G=	NP_620594.1:p.Ala472=
NM_139026.6:c.1321G=	NP_620595.1:p.Ala441=
NM_139027.6:c.1414G= MANE Select	NP_620596.2:p.Ala472=
NR_024514.3:n.995-2432G=