Canonical Allele Identifier: CA2692369571

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133443428-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443431del , CM000671.2:g.133443431del	GRCh38
NC_000009.10:g.135298373del	NCBI36
NG_011934.2:g.34093del , LRG_544:g.34093del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2290del MANE Select	ENSP00000347927.2:p.Glu764SerfsTer14
ENST00000355699.6:c.2290del	ENSP00000347927.2:p.Glu764SerfsTer14
ENST00000356589.6:c.2197del	ENSP00000348997.2:p.Glu733SerfsTer14
ENST00000371916.5:c.1225-1432del	ENSP00000360984.2:n.1225-1432del
ENST00000371929.7:c.2290del	ENSP00000360997.3:p.Glu764SerfsTer14
ENST00000474918.1:c.*828del	ENSP00000435305.1:n.*828del
ENST00000485925.5:n.1237-1432del
ENST00000495234.5:c.*1253-1432del	ENSP00000435274.1:n.*1253-1432del
NM_139025.4:c.2290del , LRG_544t1:c.2290del	NP_620594.1:p.Glu764SerfsTer14
NM_139026.4:c.2197del	NP_620595.1:p.Glu733SerfsTer14
NM_139027.4:c.2290del	NP_620596.2:p.Glu764SerfsTer14
NR_024514.2:n.1256-1432del
XM_011518174.1:c.1900del	XP_011516476.1:p.Glu634SerfsTer14
XM_011518175.1:c.2290del	XP_011516477.1:p.Glu764SerfsTer14
XM_011518176.1:c.1306del	XP_011516478.1:p.Glu436SerfsTer14
XM_011518177.1:c.1300del	XP_011516479.1:p.Glu434SerfsTer14
XM_011518178.1:c.955del	XP_011516480.1:p.Glu319SerfsTer14
XM_011518179.1:c.955del	XP_011516481.1:p.Glu319SerfsTer14
XM_011518180.1:c.687-1432del	XP_011516482.1:n.687-1432del
XM_011518176.3:c.1306del	XP_011516478.1:p.Glu436SerfsTer14
XM_011518178.2:c.955del	XP_011516480.1:p.Glu319SerfsTer14
XM_017014232.1:c.2278del	XP_016869721.1:p.Glu760SerfsTer14
XM_017014233.1:c.1900del	XP_016869722.1:p.Glu634SerfsTer14
XM_017014234.2:c.1300del	XP_016869723.1:p.Glu434SerfsTer14
XM_017014235.1:c.2234+688del	XP_016869724.1:n.2234+688del
XR_001746171.1:n.3194-1432del
NM_139026.5:c.2197del	NP_620595.1:p.Glu733SerfsTer14
NM_139027.5:c.2290del	NP_620596.2:p.Glu764SerfsTer14
NM_139025.5:c.2290del	NP_620594.1:p.Glu764SerfsTer14
NM_139026.6:c.2197del	NP_620595.1:p.Glu733SerfsTer14
NM_139027.6:c.2290del MANE Select	NP_620596.2:p.Glu764SerfsTer14
NR_024514.3:n.1258-1432del