Canonical Allele Identifier: CA375410868

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454598-G-A
• MyVariant Identifiers: chr9:g.133454598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454598G>A , CM000671.2:g.133454598G>A	GRCh38
NC_000009.10:g.135309541G>A	NCBI36
NG_011934.2:g.45260G>A , LRG_544:g.45260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3228G>A MANE Select	ENSP00000347927.2:p.Trp1076Ter
ENST00000355699.6:c.3228G>A	ENSP00000347927.2:p.Trp1076Ter
ENST00000356589.6:c.3135G>A	ENSP00000348997.2:p.Trp1045Ter
ENST00000371916.5:c.*697G>A	ENSP00000360984.2:n.*697G>A
ENST00000371929.7:c.3228G>A	ENSP00000360997.3:p.Trp1076Ter
ENST00000485925.5:n.2044G>A
NM_139025.4:c.3228G>A , LRG_544t1:c.3228G>A	NP_620594.1:p.Trp1076Ter
NM_139026.4:c.3135G>A	NP_620595.1:p.Trp1045Ter
NM_139027.4:c.3228G>A	NP_620596.2:p.Trp1076Ter
NR_024514.2:n.2063G>A
XM_011518174.1:c.2838G>A	XP_011516476.1:p.Trp946Ter
XM_011518175.1:c.3228G>A	XP_011516477.1:p.Trp1076Ter
XM_011518176.1:c.2244G>A	XP_011516478.1:p.Trp748Ter
XM_011518177.1:c.2238G>A	XP_011516479.1:p.Trp746Ter
XM_011518178.1:c.1893G>A	XP_011516480.1:p.Trp631Ter
XM_011518179.1:c.1893G>A	XP_011516481.1:p.Trp631Ter
XM_011518180.1:c.1494G>A	XP_011516482.1:p.Trp498Ter
XM_011518176.3:c.2244G>A	XP_011516478.1:p.Trp748Ter
XM_011518178.2:c.1893G>A	XP_011516480.1:p.Trp631Ter
XM_017014232.1:c.3216G>A	XP_016869721.1:p.Trp1072Ter
XM_017014233.1:c.2838G>A	XP_016869722.1:p.Trp946Ter
XM_017014234.2:c.2238G>A	XP_016869723.1:p.Trp746Ter
NM_139026.5:c.3135G>A	NP_620595.1:p.Trp1045Ter
NM_139027.5:c.3228G>A	NP_620596.2:p.Trp1076Ter
NM_139025.5:c.3228G>A	NP_620594.1:p.Trp1076Ter
NM_139026.6:c.3135G>A	NP_620595.1:p.Trp1045Ter
NM_139027.6:c.3228G>A MANE Select	NP_620596.2:p.Trp1076Ter
NR_024514.3:n.2065G>A