Canonical Allele Identifier: CA2692371411

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436928-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436932del , CM000671.2:g.133436932del	GRCh38
NC_000009.10:g.135291873del	NCBI36
NG_011934.2:g.27594del , LRG_544:g.27594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1412del MANE Select	ENSP00000347927.2:p.Gly471ValfsTer26
ENST00000355699.6:c.1412del	ENSP00000347927.2:p.Gly471ValfsTer26
ENST00000356589.6:c.1319del	ENSP00000348997.2:p.Gly440ValfsTer26
ENST00000371916.5:c.668del	ENSP00000360984.2:p.Gly223ValfsTer26
ENST00000371929.7:c.1412del	ENSP00000360997.3:p.Gly471ValfsTer26
ENST00000474918.1:c.*216del	ENSP00000435305.1:n.*216del
ENST00000485925.5:n.974-2434del
ENST00000495234.5:c.*696del	ENSP00000435274.1:n.*696del
NM_139025.4:c.1412del , LRG_544t1:c.1412del	NP_620594.1:p.Gly471ValfsTer26
NM_139026.4:c.1319del	NP_620595.1:p.Gly440ValfsTer26
NM_139027.4:c.1412del	NP_620596.2:p.Gly471ValfsTer26
NR_024514.2:n.993-2434del
XM_011518174.1:c.1022del	XP_011516476.1:p.Gly341ValfsTer26
XM_011518175.1:c.1412del	XP_011516477.1:p.Gly471ValfsTer26
XM_011518176.1:c.428del	XP_011516478.1:p.Gly143ValfsTer26
XM_011518177.1:c.422del	XP_011516479.1:p.Gly141ValfsTer26
XM_011518178.1:c.77del	XP_011516480.1:p.Gly26ValfsTer26
XM_011518179.1:c.198del	XP_011516481.1:p.Cys67AlafsTer?
XM_011518180.1:c.687-7931del	XP_011516482.1:n.687-7931del
XM_011518176.3:c.428del	XP_011516478.1:p.Gly143ValfsTer26
XM_011518178.2:c.77del	XP_011516480.1:p.Gly26ValfsTer26
XM_017014232.1:c.1400del	XP_016869721.1:p.Gly467ValfsTer26
XM_017014233.1:c.1022del	XP_016869722.1:p.Gly341ValfsTer26
XM_017014234.2:c.422del	XP_016869723.1:p.Gly141ValfsTer26
XM_017014235.1:c.1412del	XP_016869724.1:p.Gly471ValfsTer26
XR_001746171.1:n.2637del
NM_139026.5:c.1319del	NP_620595.1:p.Gly440ValfsTer26
NM_139027.5:c.1412del	NP_620596.2:p.Gly471ValfsTer26
NM_139025.5:c.1412del	NP_620594.1:p.Gly471ValfsTer26
NM_139026.6:c.1319del	NP_620595.1:p.Gly440ValfsTer26
NM_139027.6:c.1412del MANE Select	NP_620596.2:p.Gly471ValfsTer26
NR_024514.3:n.995-2434del