Canonical Allele Identifier: CA200943217

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs782633692
• gnomAD v4: 9-133454558-CCA-C
• MyVariant Identifiers: chr9:g.133454559_133454560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454559_133454560del , CM000671.2:g.133454559_133454560del	GRCh38
NC_000009.10:g.135309502_135309503del	NCBI36
NG_011934.2:g.45221_45222del , LRG_544:g.45221_45222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3189_3190del MANE Select	ENSP00000347927.2:p.Ser1064CysfsTer?
ENST00000355699.6:c.3189_3190del	ENSP00000347927.2:p.Ser1064CysfsTer?
ENST00000356589.6:c.3096_3097del	ENSP00000348997.2:p.Ser1033CysfsTer?
ENST00000371916.5:c.*658_*659del	ENSP00000360984.2:n.*658_*659del
ENST00000371929.7:c.3189_3190del	ENSP00000360997.3:p.Ser1064CysfsTer?
ENST00000485925.5:n.2005_2006del
NM_139025.4:c.3189_3190del , LRG_544t1:c.3189_3190del	NP_620594.1:p.Ser1064CysfsTer?
NM_139026.4:c.3096_3097del	NP_620595.1:p.Ser1033CysfsTer?
NM_139027.4:c.3189_3190del	NP_620596.2:p.Ser1064CysfsTer?
NR_024514.2:n.2024_2025del
XM_011518174.1:c.2799_2800del	XP_011516476.1:p.Ser934CysfsTer?
XM_011518175.1:c.3189_3190del	XP_011516477.1:p.Ser1064CysfsTer?
XM_011518176.1:c.2205_2206del	XP_011516478.1:p.Ser736CysfsTer?
XM_011518177.1:c.2199_2200del	XP_011516479.1:p.Ser734CysfsTer?
XM_011518178.1:c.1854_1855del	XP_011516480.1:p.Ser619CysfsTer?
XM_011518179.1:c.1854_1855del	XP_011516481.1:p.Ser619CysfsTer?
XM_011518180.1:c.1455_1456del	XP_011516482.1:p.Ser486CysfsTer?
XM_011518176.3:c.2205_2206del	XP_011516478.1:p.Ser736CysfsTer?
XM_011518178.2:c.1854_1855del	XP_011516480.1:p.Ser619CysfsTer?
XM_017014232.1:c.3177_3178del	XP_016869721.1:p.Ser1060CysfsTer?
XM_017014233.1:c.2799_2800del	XP_016869722.1:p.Ser934CysfsTer?
XM_017014234.2:c.2199_2200del	XP_016869723.1:p.Ser734CysfsTer?
NM_139026.5:c.3096_3097del	NP_620595.1:p.Ser1033CysfsTer?
NM_139027.5:c.3189_3190del	NP_620596.2:p.Ser1064CysfsTer?
NM_139025.5:c.3189_3190del	NP_620594.1:p.Ser1064CysfsTer?
NM_139026.6:c.3096_3097del	NP_620595.1:p.Ser1033CysfsTer?
NM_139027.6:c.3189_3190del MANE Select	NP_620596.2:p.Ser1064CysfsTer?
NR_024514.3:n.2026_2027del