Canonical Allele Identifier: CA2838498161

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437942C>G , CM000671.2:g.133437942C>G	GRCh38
NC_000009.10:g.135292883C>G	NCBI36
NG_011934.2:g.28604C>G , LRG_544:g.28604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1584+45C>G MANE Select	ENSP00000347927.2:n.1584+45C>G
ENST00000355699.6:c.1584+45C>G	ENSP00000347927.2:n.1584+45C>G
ENST00000356589.6:c.1491+45C>G	ENSP00000348997.2:n.1491+45C>G
ENST00000371916.5:c.840+45C>G	ENSP00000360984.2:n.840+45C>G
ENST00000371929.7:c.1584+45C>G	ENSP00000360997.3:n.1584+45C>G
ENST00000474918.1:c.*388+45C>G	ENSP00000435305.1:n.*388+45C>G
ENST00000485925.5:n.974-1424C>G
ENST00000495234.5:c.*868+45C>G	ENSP00000435274.1:n.*868+45C>G
NM_139025.4:c.1584+45C>G , LRG_544t1:c.1584+45C>G	NP_620594.1:n.1584+45C>G
NM_139026.4:c.1491+45C>G	NP_620595.1:n.1491+45C>G
NM_139027.4:c.1584+45C>G	NP_620596.2:n.1584+45C>G
NR_024514.2:n.993-1424C>G
XM_011518174.1:c.1194+45C>G	XP_011516476.1:n.1194+45C>G
XM_011518175.1:c.1584+45C>G	XP_011516477.1:n.1584+45C>G
XM_011518176.1:c.600+45C>G	XP_011516478.1:n.600+45C>G
XM_011518177.1:c.594+45C>G	XP_011516479.1:n.594+45C>G
XM_011518178.1:c.249+45C>G	XP_011516480.1:n.249+45C>G
XM_011518179.1:c.370+45C>G	XP_011516481.1:n.370+45C>G
XM_011518180.1:c.687-6921C>G	XP_011516482.1:n.687-6921C>G
XM_011518176.3:c.600+45C>G	XP_011516478.1:n.600+45C>G
XM_011518178.2:c.249+45C>G	XP_011516480.1:n.249+45C>G
XM_017014232.1:c.1572+45C>G	XP_016869721.1:n.1572+45C>G
XM_017014233.1:c.1194+45C>G	XP_016869722.1:n.1194+45C>G
XM_017014234.2:c.594+45C>G	XP_016869723.1:n.594+45C>G
XM_017014235.1:c.1584+45C>G	XP_016869724.1:n.1584+45C>G
XR_001746171.1:n.2809+45C>G
NM_139026.5:c.1491+45C>G	NP_620595.1:n.1491+45C>G
NM_139027.5:c.1584+45C>G	NP_620596.2:n.1584+45C>G
NM_139025.5:c.1584+45C>G	NP_620594.1:n.1584+45C>G
NM_139026.6:c.1491+45C>G	NP_620595.1:n.1491+45C>G
NM_139027.6:c.1584+45C>G MANE Select	NP_620596.2:n.1584+45C>G
NR_024514.3:n.995-1424C>G