Canonical Allele Identifier: CA2692371165

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436880-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436881del , CM000671.2:g.133436881del	GRCh38
NC_000009.10:g.135291822del	NCBI36
NG_011934.2:g.27543del , LRG_544:g.27543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1361del MANE Select	ENSP00000347927.2:p.Asp454AlafsTer?
ENST00000355699.6:c.1361del	ENSP00000347927.2:p.Asp454AlafsTer?
ENST00000356589.6:c.1268del	ENSP00000348997.2:p.Asp423AlafsTer?
ENST00000371916.5:c.617del	ENSP00000360984.2:p.Asp206AlafsTer?
ENST00000371929.7:c.1361del	ENSP00000360997.3:p.Asp454AlafsTer?
ENST00000474918.1:c.*165del	ENSP00000435305.1:n.*165del
ENST00000485925.5:n.974-2485del
ENST00000495234.5:c.*645del	ENSP00000435274.1:n.*645del
NM_139025.4:c.1361del , LRG_544t1:c.1361del	NP_620594.1:p.Asp454AlafsTer?
NM_139026.4:c.1268del	NP_620595.1:p.Asp423AlafsTer?
NM_139027.4:c.1361del	NP_620596.2:p.Asp454AlafsTer?
NR_024514.2:n.993-2485del
XM_011518174.1:c.971del	XP_011516476.1:p.Asp324AlafsTer?
XM_011518175.1:c.1361del	XP_011516477.1:p.Asp454AlafsTer?
XM_011518176.1:c.377del	XP_011516478.1:p.Asp126AlafsTer?
XM_011518177.1:c.371del	XP_011516479.1:p.Asp124AlafsTer?
XM_011518178.1:c.26del	XP_011516480.1:p.Asp9AlafsTer?
XM_011518179.1:c.147del	XP_011516481.1:p.Arg50GlyfsTer?
XM_011518180.1:c.687-7982del	XP_011516482.1:n.687-7982del
XM_011518176.3:c.377del	XP_011516478.1:p.Asp126AlafsTer?
XM_011518178.2:c.26del	XP_011516480.1:p.Asp9AlafsTer?
XM_017014232.1:c.1349del	XP_016869721.1:p.Asp450AlafsTer?
XM_017014233.1:c.971del	XP_016869722.1:p.Asp324AlafsTer?
XM_017014234.2:c.371del	XP_016869723.1:p.Asp124AlafsTer?
XM_017014235.1:c.1361del	XP_016869724.1:p.Asp454AlafsTer?
XR_001746171.1:n.2586del
NM_139026.5:c.1268del	NP_620595.1:p.Asp423AlafsTer?
NM_139027.5:c.1361del	NP_620596.2:p.Asp454AlafsTer?
NM_139025.5:c.1361del	NP_620594.1:p.Asp454AlafsTer?
NM_139026.6:c.1268del	NP_620595.1:p.Asp423AlafsTer?
NM_139027.6:c.1361del MANE Select	NP_620596.2:p.Asp454AlafsTer?
NR_024514.3:n.995-2485del