Canonical Allele Identifier: CA2692371009

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436849-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436851_133436852del , CM000671.2:g.133436851_133436852del	GRCh38
NC_000009.10:g.135291792_135291793del	NCBI36
NG_011934.2:g.27513_27514del , LRG_544:g.27513_27514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1331_1332del MANE Select	ENSP00000347927.2:p.Glu444ValfsTer?
ENST00000355699.6:c.1331_1332del	ENSP00000347927.2:p.Glu444ValfsTer?
ENST00000356589.6:c.1238_1239del	ENSP00000348997.2:p.Glu413ValfsTer?
ENST00000371916.5:c.587_588del	ENSP00000360984.2:p.Glu196ValfsTer?
ENST00000371929.7:c.1331_1332del	ENSP00000360997.3:p.Glu444ValfsTer?
ENST00000474918.1:c.*135_*136del	ENSP00000435305.1:n.*135_*136del
ENST00000485925.5:n.974-2515_974-2514del
ENST00000495234.5:c.*615_*616del	ENSP00000435274.1:n.*615_*616del
NM_139025.4:c.1331_1332del , LRG_544t1:c.1331_1332del	NP_620594.1:p.Glu444ValfsTer?
NM_139026.4:c.1238_1239del	NP_620595.1:p.Glu413ValfsTer?
NM_139027.4:c.1331_1332del	NP_620596.2:p.Glu444ValfsTer?
NR_024514.2:n.993-2515_993-2514del
XM_011518174.1:c.941_942del	XP_011516476.1:p.Glu314ValfsTer?
XM_011518175.1:c.1331_1332del	XP_011516477.1:p.Glu444ValfsTer?
XM_011518176.1:c.347_348del	XP_011516478.1:p.Glu116ValfsTer?
XM_011518177.1:c.341_342del	XP_011516479.1:p.Glu114ValfsTer?
XM_011518178.1:c.-5_-4del	XP_011516480.1:n.-5_-4del
XM_011518179.1:c.117_118del	XP_011516481.1:p.Val40SerfsTer?
XM_011518180.1:c.687-8012_687-8011del	XP_011516482.1:n.687-8012_687-8011del
XM_011518176.3:c.347_348del	XP_011516478.1:p.Glu116ValfsTer?
XM_011518178.2:c.-5_-4del	XP_011516480.1:n.-5_-4del
XM_017014232.1:c.1319_1320del	XP_016869721.1:p.Glu440ValfsTer?
XM_017014233.1:c.941_942del	XP_016869722.1:p.Glu314ValfsTer?
XM_017014234.2:c.341_342del	XP_016869723.1:p.Glu114ValfsTer?
XM_017014235.1:c.1331_1332del	XP_016869724.1:p.Glu444ValfsTer?
XR_001746171.1:n.2556_2557del
NM_139026.5:c.1238_1239del	NP_620595.1:p.Glu413ValfsTer?
NM_139027.5:c.1331_1332del	NP_620596.2:p.Glu444ValfsTer?
NM_139025.5:c.1331_1332del	NP_620594.1:p.Glu444ValfsTer?
NM_139026.6:c.1238_1239del	NP_620595.1:p.Glu413ValfsTer?
NM_139027.6:c.1331_1332del MANE Select	NP_620596.2:p.Glu444ValfsTer?
NR_024514.3:n.995-2515_995-2514del