Canonical Allele Identifier: CA2692369516

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133443420-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443421del , CM000671.2:g.133443421del	GRCh38
NG_011934.2:g.34083del , LRG_544:g.34083del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2280del MANE Select	ENSP00000347927.2:p.Gly761AlafsTer17
ENST00000355699.6:c.2280del	ENSP00000347927.2:p.Gly761AlafsTer17
ENST00000356589.6:c.2187del	ENSP00000348997.2:p.Gly730AlafsTer17
ENST00000371916.5:c.1225-1442del	ENSP00000360984.2:n.1225-1442del
ENST00000371929.7:c.2280del	ENSP00000360997.3:p.Gly761AlafsTer17
ENST00000474918.1:c.*818del	ENSP00000435305.1:n.*818del
ENST00000485925.5:n.1237-1442del
ENST00000495234.5:c.*1253-1442del	ENSP00000435274.1:n.*1253-1442del
NM_139025.4:c.2280del , LRG_544t1:c.2280del	NP_620594.1:p.Gly761AlafsTer17
NM_139026.4:c.2187del	NP_620595.1:p.Gly730AlafsTer17
NM_139027.4:c.2280del	NP_620596.2:p.Gly761AlafsTer17
NR_024514.2:n.1256-1442del
XM_011518174.1:c.1890del	XP_011516476.1:p.Gly631AlafsTer17
XM_011518175.1:c.2280del	XP_011516477.1:p.Gly761AlafsTer17
XM_011518176.1:c.1296del	XP_011516478.1:p.Gly433AlafsTer17
XM_011518177.1:c.1290del	XP_011516479.1:p.Gly431AlafsTer17
XM_011518178.1:c.945del	XP_011516480.1:p.Gly316AlafsTer17
XM_011518179.1:c.945del	XP_011516481.1:p.Gly316AlafsTer17
XM_011518180.1:c.687-1442del	XP_011516482.1:n.687-1442del
XM_011518176.3:c.1296del	XP_011516478.1:p.Gly433AlafsTer17
XM_011518178.2:c.945del	XP_011516480.1:p.Gly316AlafsTer17
XM_017014232.1:c.2268del	XP_016869721.1:p.Gly757AlafsTer17
XM_017014233.1:c.1890del	XP_016869722.1:p.Gly631AlafsTer17
XM_017014234.2:c.1290del	XP_016869723.1:p.Gly431AlafsTer17
XM_017014235.1:c.2234+678del	XP_016869724.1:n.2234+678del
XR_001746171.1:n.3194-1442del
NM_139026.5:c.2187del	NP_620595.1:p.Gly730AlafsTer17
NM_139027.5:c.2280del	NP_620596.2:p.Gly761AlafsTer17
NM_139025.5:c.2280del	NP_620594.1:p.Gly761AlafsTer17
NM_139026.6:c.2187del	NP_620595.1:p.Gly730AlafsTer17
NM_139027.6:c.2280del MANE Select	NP_620596.2:p.Gly761AlafsTer17
NR_024514.3:n.1258-1442del