Canonical Allele Identifier: CA2692371117

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436869-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436870del , CM000671.2:g.133436870del	GRCh38
NC_000009.10:g.135291811del	NCBI36
NG_011934.2:g.27532del , LRG_544:g.27532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1350del MANE Select	ENSP00000347927.2:p.Cys450TrpfsTer?
ENST00000355699.6:c.1350del	ENSP00000347927.2:p.Cys450TrpfsTer?
ENST00000356589.6:c.1257del	ENSP00000348997.2:p.Cys419TrpfsTer?
ENST00000371916.5:c.606del	ENSP00000360984.2:p.Cys202TrpfsTer?
ENST00000371929.7:c.1350del	ENSP00000360997.3:p.Cys450TrpfsTer?
ENST00000474918.1:c.*154del	ENSP00000435305.1:n.*154del
ENST00000485925.5:n.974-2496del
ENST00000495234.5:c.*634del	ENSP00000435274.1:n.*634del
NM_139025.4:c.1350del , LRG_544t1:c.1350del	NP_620594.1:p.Cys450TrpfsTer?
NM_139026.4:c.1257del	NP_620595.1:p.Cys419TrpfsTer?
NM_139027.4:c.1350del	NP_620596.2:p.Cys450TrpfsTer?
NR_024514.2:n.993-2496del
XM_011518174.1:c.960del	XP_011516476.1:p.Cys320TrpfsTer?
XM_011518175.1:c.1350del	XP_011516477.1:p.Cys450TrpfsTer?
XM_011518176.1:c.366del	XP_011516478.1:p.Cys122TrpfsTer?
XM_011518177.1:c.360del	XP_011516479.1:p.Cys120TrpfsTer?
XM_011518178.1:c.15del	XP_011516480.1:p.Cys5TrpfsTer?
XM_011518179.1:c.136del	XP_011516481.1:p.Arg46AlafsTer?
XM_011518180.1:c.687-7993del	XP_011516482.1:n.687-7993del
XM_011518176.3:c.366del	XP_011516478.1:p.Cys122TrpfsTer?
XM_011518178.2:c.15del	XP_011516480.1:p.Cys5TrpfsTer?
XM_017014232.1:c.1338del	XP_016869721.1:p.Cys446TrpfsTer?
XM_017014233.1:c.960del	XP_016869722.1:p.Cys320TrpfsTer?
XM_017014234.2:c.360del	XP_016869723.1:p.Cys120TrpfsTer?
XM_017014235.1:c.1350del	XP_016869724.1:p.Cys450TrpfsTer?
XR_001746171.1:n.2575del
NM_139026.5:c.1257del	NP_620595.1:p.Cys419TrpfsTer?
NM_139027.5:c.1350del	NP_620596.2:p.Cys450TrpfsTer?
NM_139025.5:c.1350del	NP_620594.1:p.Cys450TrpfsTer?
NM_139026.6:c.1257del	NP_620595.1:p.Cys419TrpfsTer?
NM_139027.6:c.1350del MANE Select	NP_620596.2:p.Cys450TrpfsTer?
NR_024514.3:n.995-2496del