Canonical Allele Identifier: CA2692369473

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133443415-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443420del , CM000671.2:g.133443420del	GRCh38
NC_000009.10:g.135298362del	NCBI36
NG_011934.2:g.34082del , LRG_544:g.34082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2279del MANE Select	ENSP00000347927.2:p.Gly760ValfsTer18
ENST00000355699.6:c.2279del	ENSP00000347927.2:p.Gly760ValfsTer18
ENST00000356589.6:c.2186del	ENSP00000348997.2:p.Gly729ValfsTer18
ENST00000371916.5:c.1225-1443del	ENSP00000360984.2:n.1225-1443del
ENST00000371929.7:c.2279del	ENSP00000360997.3:p.Gly760ValfsTer18
ENST00000474918.1:c.*817del	ENSP00000435305.1:n.*817del
ENST00000485925.5:n.1237-1443del
ENST00000495234.5:c.*1253-1443del	ENSP00000435274.1:n.*1253-1443del
NM_139025.4:c.2279del , LRG_544t1:c.2279del	NP_620594.1:p.Gly760ValfsTer18
NM_139026.4:c.2186del	NP_620595.1:p.Gly729ValfsTer18
NM_139027.4:c.2279del	NP_620596.2:p.Gly760ValfsTer18
NR_024514.2:n.1256-1443del
XM_011518174.1:c.1889del	XP_011516476.1:p.Gly630ValfsTer18
XM_011518175.1:c.2279del	XP_011516477.1:p.Gly760ValfsTer18
XM_011518176.1:c.1295del	XP_011516478.1:p.Gly432ValfsTer18
XM_011518177.1:c.1289del	XP_011516479.1:p.Gly430ValfsTer18
XM_011518178.1:c.944del	XP_011516480.1:p.Gly315ValfsTer18
XM_011518179.1:c.944del	XP_011516481.1:p.Gly315ValfsTer18
XM_011518180.1:c.687-1443del	XP_011516482.1:n.687-1443del
XM_011518176.3:c.1295del	XP_011516478.1:p.Gly432ValfsTer18
XM_011518178.2:c.944del	XP_011516480.1:p.Gly315ValfsTer18
XM_017014232.1:c.2267del	XP_016869721.1:p.Gly756ValfsTer18
XM_017014233.1:c.1889del	XP_016869722.1:p.Gly630ValfsTer18
XM_017014234.2:c.1289del	XP_016869723.1:p.Gly430ValfsTer18
XM_017014235.1:c.2234+677del	XP_016869724.1:n.2234+677del
XR_001746171.1:n.3194-1443del
NM_139026.5:c.2186del	NP_620595.1:p.Gly729ValfsTer18
NM_139027.5:c.2279del	NP_620596.2:p.Gly760ValfsTer18
NM_139025.5:c.2279del	NP_620594.1:p.Gly760ValfsTer18
NM_139026.6:c.2186del	NP_620595.1:p.Gly729ValfsTer18
NM_139027.6:c.2279del MANE Select	NP_620596.2:p.Gly760ValfsTer18
NR_024514.3:n.1258-1443del