Canonical Allele Identifier: CA2692369956

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133443517-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133443517A>G , CM000671.2:g.133443517A>G	GRCh38
NC_000009.10:g.135298459A>G	NCBI36
NG_011934.2:g.34179A>G , LRG_544:g.34179A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.2376A>G MANE Select	ENSP00000347927.2:p.Pro792=
ENST00000355699.6:c.2376A>G	ENSP00000347927.2:p.Pro792=
ENST00000356589.6:c.2283A>G	ENSP00000348997.2:p.Pro761=
ENST00000371916.5:c.1225-1346A>G	ENSP00000360984.2:n.1225-1346A>G
ENST00000371929.7:c.2376A>G	ENSP00000360997.3:p.Pro792=
ENST00000474918.1:c.*914A>G	ENSP00000435305.1:n.*914A>G
ENST00000485925.5:n.1237-1346A>G
ENST00000495234.5:c.*1253-1346A>G	ENSP00000435274.1:n.*1253-1346A>G
NM_139025.4:c.2376A>G , LRG_544t1:c.2376A>G	NP_620594.1:p.Pro792=
NM_139026.4:c.2283A>G	NP_620595.1:p.Pro761=
NM_139027.4:c.2376A>G	NP_620596.2:p.Pro792=
NR_024514.2:n.1256-1346A>G
XM_011518174.1:c.1986A>G	XP_011516476.1:p.Pro662=
XM_011518175.1:c.2376A>G	XP_011516477.1:p.Pro792=
XM_011518176.1:c.1392A>G	XP_011516478.1:p.Pro464=
XM_011518177.1:c.1386A>G	XP_011516479.1:p.Pro462=
XM_011518178.1:c.1041A>G	XP_011516480.1:p.Pro347=
XM_011518179.1:c.1041A>G	XP_011516481.1:p.Pro347=
XM_011518180.1:c.687-1346A>G	XP_011516482.1:n.687-1346A>G
XM_011518176.3:c.1392A>G	XP_011516478.1:p.Pro464=
XM_011518178.2:c.1041A>G	XP_011516480.1:p.Pro347=
XM_017014232.1:c.2364A>G	XP_016869721.1:p.Pro788=
XM_017014233.1:c.1986A>G	XP_016869722.1:p.Pro662=
XM_017014234.2:c.1386A>G	XP_016869723.1:p.Pro462=
XM_017014235.1:c.2234+774A>G	XP_016869724.1:n.2234+774A>G
XR_001746171.1:n.3194-1346A>G
NM_139026.5:c.2283A>G	NP_620595.1:p.Pro761=
NM_139027.5:c.2376A>G	NP_620596.2:p.Pro792=
NM_139025.5:c.2376A>G	NP_620594.1:p.Pro792=
NM_139026.6:c.2283A>G	NP_620595.1:p.Pro761=
NM_139027.6:c.2376A>G MANE Select	NP_620596.2:p.Pro792=
NR_024514.3:n.1258-1346A>G