Canonical Allele Identifier: CA200930456

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437902G>A , CM000671.2:g.133437902G>A	GRCh38
NC_000009.10:g.135292843G>A	NCBI36
NG_011934.2:g.28564G>A , LRG_544:g.28564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1584+5G>A MANE Select	NP_620596.2:n.1584+5G>A
ENST00000355699.7:c.1584+5G>A MANE Select	ENSP00000347927.2:n.1584+5G>A
NM_139025.4:c.1584+5G>A , LRG_544t1:c.1584+5G>A	NP_620594.1:n.1584+5G>A
NM_139025.5:c.1584+5G>A	NP_620594.1:n.1584+5G>A
NM_139026.4:c.1491+5G>A	NP_620595.1:n.1491+5G>A
NM_139026.5:c.1491+5G>A	NP_620595.1:n.1491+5G>A
NM_139026.6:c.1491+5G>A	NP_620595.1:n.1491+5G>A
NM_139027.4:c.1584+5G>A	NP_620596.2:n.1584+5G>A
NM_139027.5:c.1584+5G>A	NP_620596.2:n.1584+5G>A
NR_024514.2:n.993-1464G>A
NR_024514.3:n.995-1464G>A
ENST00000355699.6:c.1584+5G>A	ENSP00000347927.2:n.1584+5G>A
ENST00000356589.6:c.1491+5G>A	ENSP00000348997.2:n.1491+5G>A
ENST00000371916.5:c.840+5G>A	ENSP00000360984.2:n.840+5G>A
ENST00000371929.7:c.1584+5G>A	ENSP00000360997.3:n.1584+5G>A
ENST00000474918.1:c.*388+5G>A	ENSP00000435305.1:n.*388+5G>A
ENST00000485925.5:n.974-1464G>A
ENST00000495234.5:c.*868+5G>A	ENSP00000435274.1:n.*868+5G>A
XM_011518174.1:c.1194+5G>A	XP_011516476.1:n.1194+5G>A
XM_011518175.1:c.1584+5G>A	XP_011516477.1:n.1584+5G>A
XM_011518176.1:c.600+5G>A	XP_011516478.1:n.600+5G>A
XM_011518176.3:c.600+5G>A	XP_011516478.1:n.600+5G>A
XM_011518177.1:c.594+5G>A	XP_011516479.1:n.594+5G>A
XM_011518178.1:c.249+5G>A	XP_011516480.1:n.249+5G>A
XM_011518178.2:c.249+5G>A	XP_011516480.1:n.249+5G>A
XM_011518179.1:c.370+5G>A	XP_011516481.1:n.370+5G>A
XM_011518180.1:c.687-6961G>A	XP_011516482.1:n.687-6961G>A
XM_017014232.1:c.1572+5G>A	XP_016869721.1:n.1572+5G>A
XM_017014233.1:c.1194+5G>A	XP_016869722.1:n.1194+5G>A
XM_017014234.2:c.594+5G>A	XP_016869723.1:n.594+5G>A
XM_017014235.1:c.1584+5G>A	XP_016869724.1:n.1584+5G>A
XR_001746171.1:n.2809+5G>A