Canonical Allele Identifier: CA1882678012

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133442704C= , CM000671.2:g.133442704C=	GRCh38
NC_000009.10:g.135297646C=	NCBI36
NG_011934.2:g.33366C= , LRG_544:g.33366C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2195C= MANE Select	ENSP00000347927.2:p.Ala732=
ENST00000355699.6:c.2195C=	ENSP00000347927.2:p.Ala732=
ENST00000356589.6:c.2102C=	ENSP00000348997.2:p.Ala701=
ENST00000371916.5:c.1225-2159C=	ENSP00000360984.2:n.1225-2159C=
ENST00000371929.7:c.2195C=	ENSP00000360997.3:p.Ala732=
ENST00000474918.1:c.*773-672C=	ENSP00000435305.1:n.*773-672C=
ENST00000485925.5:n.1237-2159C=
ENST00000495234.5:c.*1253-2159C=	ENSP00000435274.1:n.*1253-2159C=
NM_139025.4:c.2195C= , LRG_544t1:c.2195C=	NP_620594.1:p.Ala732=
NM_139026.4:c.2102C=	NP_620595.1:p.Ala701=
NM_139027.4:c.2195C=	NP_620596.2:p.Ala732=
NR_024514.2:n.1256-2159C=
XM_011518174.1:c.1805C=	XP_011516476.1:p.Ala602=
XM_011518175.1:c.2195C=	XP_011516477.1:p.Ala732=
XM_011518176.1:c.1211C=	XP_011516478.1:p.Ala404=
XM_011518177.1:c.1205C=	XP_011516479.1:p.Ala402=
XM_011518178.1:c.860C=	XP_011516480.1:p.Ala287=
XM_011518179.1:c.860C=	XP_011516481.1:p.Ala287=
XM_011518180.1:c.687-2159C=	XP_011516482.1:n.687-2159C=
XM_011518176.3:c.1211C=	XP_011516478.1:p.Ala404=
XM_011518178.2:c.860C=	XP_011516480.1:p.Ala287=
XM_017014232.1:c.2183C=	XP_016869721.1:p.Ala728=
XM_017014233.1:c.1805C=	XP_016869722.1:p.Ala602=
XM_017014234.2:c.1205C=	XP_016869723.1:p.Ala402=
XM_017014235.1:c.2195C=	XP_016869724.1:p.Ala732=
XR_001746171.1:n.3194-2159C=
NM_139026.5:c.2102C=	NP_620595.1:p.Ala701=
NM_139027.5:c.2195C=	NP_620596.2:p.Ala732=
NM_139025.5:c.2195C=	NP_620594.1:p.Ala732=
NM_139026.6:c.2102C=	NP_620595.1:p.Ala701=
NM_139027.6:c.2195C= MANE Select	NP_620596.2:p.Ala732=
NR_024514.3:n.1258-2159C=