Canonical Allele Identifier: CA2499219751

Gene: ADAMTS13

Linked Data

• ClinVar Variation Id: 1220527
• ClinVar RCV Id: RCV001729961
• dbSNP Id: rs2130845614

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436855_133436856del , CM000671.2:g.133436855_133436856del	GRCh38
NC_000009.10:g.135291796_135291797del	NCBI36
NG_011934.2:g.27517_27518del , LRG_544:g.27517_27518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1335_1336del MANE Select	ENSP00000347927.2:p.Met446ValfsTer?
ENST00000355699.6:c.1335_1336del	ENSP00000347927.2:p.Met446ValfsTer?
ENST00000356589.6:c.1242_1243del	ENSP00000348997.2:p.Met415ValfsTer?
ENST00000371916.5:c.591_592del	ENSP00000360984.2:p.Met198ValfsTer?
ENST00000371929.7:c.1335_1336del	ENSP00000360997.3:p.Met446ValfsTer?
ENST00000474918.1:c.*139_*140del	ENSP00000435305.1:n.*139_*140del
ENST00000485925.5:n.974-2511_974-2510del
ENST00000495234.5:c.*619_*620del	ENSP00000435274.1:n.*619_*620del
NM_139025.4:c.1335_1336del , LRG_544t1:c.1335_1336del	NP_620594.1:p.Met446ValfsTer?
NM_139026.4:c.1242_1243del	NP_620595.1:p.Met415ValfsTer?
NM_139027.4:c.1335_1336del	NP_620596.2:p.Met446ValfsTer?
NR_024514.2:n.993-2511_993-2510del
XM_011518174.1:c.945_946del	XP_011516476.1:p.Met316ValfsTer?
XM_011518175.1:c.1335_1336del	XP_011516477.1:p.Met446ValfsTer?
XM_011518176.1:c.351_352del	XP_011516478.1:p.Met118ValfsTer?
XM_011518177.1:c.345_346del	XP_011516479.1:p.Met116ValfsTer?
XM_011518178.1:c.-1_1del
XM_011518179.1:c.121_122del	XP_011516481.1:p.His41CysfsTer?
XM_011518180.1:c.687-8008_687-8007del	XP_011516482.1:n.687-8008_687-8007del
XM_011518176.3:c.351_352del	XP_011516478.1:p.Met118ValfsTer?
XM_011518178.2:c.-1_1del
XM_017014232.1:c.1323_1324del	XP_016869721.1:p.Met442ValfsTer?
XM_017014233.1:c.945_946del	XP_016869722.1:p.Met316ValfsTer?
XM_017014234.2:c.345_346del	XP_016869723.1:p.Met116ValfsTer?
XM_017014235.1:c.1335_1336del	XP_016869724.1:p.Met446ValfsTer?
XR_001746171.1:n.2560_2561del
NM_139026.5:c.1242_1243del	NP_620595.1:p.Met415ValfsTer?
NM_139027.5:c.1335_1336del	NP_620596.2:p.Met446ValfsTer?
NM_139025.5:c.1335_1336del	NP_620594.1:p.Met446ValfsTer?
NM_139026.6:c.1242_1243del	NP_620595.1:p.Met415ValfsTer?
NM_139027.6:c.1335_1336del MANE Select	NP_620596.2:p.Met446ValfsTer?
NR_024514.3:n.995-2511_995-2510del