Canonical Allele Identifier: CA2692372994

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133448672-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448673_133448674del , CM000671.2:g.133448673_133448674del	GRCh38
NC_000009.10:g.135303615_135303616del	NCBI36
NG_011934.2:g.39335_39336del , LRG_544:g.39335_39336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2806_2807del MANE Select	ENSP00000347927.2:p.Ala936LysfsTer?
ENST00000355699.6:c.2806_2807del	ENSP00000347927.2:p.Ala936LysfsTer?
ENST00000356589.6:c.2713_2714del	ENSP00000348997.2:p.Ala905LysfsTer?
ENST00000371916.5:c.*275_*276del	ENSP00000360984.2:n.*275_*276del
ENST00000371929.7:c.2806_2807del	ENSP00000360997.3:p.Ala936LysfsTer?
ENST00000485925.5:n.1622_1623del
ENST00000495234.5:c.*1638_*1639del	ENSP00000435274.1:n.*1638_*1639del
NM_139025.4:c.2806_2807del , LRG_544t1:c.2806_2807del	NP_620594.1:p.Ala936LysfsTer?
NM_139026.4:c.2713_2714del	NP_620595.1:p.Ala905LysfsTer?
NM_139027.4:c.2806_2807del	NP_620596.2:p.Ala936LysfsTer?
NR_024514.2:n.1641_1642del
XM_011518174.1:c.2416_2417del	XP_011516476.1:p.Ala806LysfsTer?
XM_011518175.1:c.2806_2807del	XP_011516477.1:p.Ala936LysfsTer?
XM_011518176.1:c.1822_1823del	XP_011516478.1:p.Ala608LysfsTer?
XM_011518177.1:c.1816_1817del	XP_011516479.1:p.Ala606LysfsTer?
XM_011518178.1:c.1471_1472del	XP_011516480.1:p.Ala491LysfsTer?
XM_011518179.1:c.1471_1472del	XP_011516481.1:p.Ala491LysfsTer?
XM_011518180.1:c.1072_1073del	XP_011516482.1:p.Ala358LysfsTer?
XM_011518176.3:c.1822_1823del	XP_011516478.1:p.Ala608LysfsTer?
XM_011518178.2:c.1471_1472del	XP_011516480.1:p.Ala491LysfsTer?
XM_017014232.1:c.2794_2795del	XP_016869721.1:p.Ala932LysfsTer?
XM_017014233.1:c.2416_2417del	XP_016869722.1:p.Ala806LysfsTer?
XM_017014234.2:c.1816_1817del	XP_016869723.1:p.Ala606LysfsTer?
XR_001746171.1:n.3579_3580del
NM_139026.5:c.2713_2714del	NP_620595.1:p.Ala905LysfsTer?
NM_139027.5:c.2806_2807del	NP_620596.2:p.Ala936LysfsTer?
NM_139025.5:c.2806_2807del	NP_620594.1:p.Ala936LysfsTer?
NM_139026.6:c.2713_2714del	NP_620595.1:p.Ala905LysfsTer?
NM_139027.6:c.2806_2807del MANE Select	NP_620596.2:p.Ala936LysfsTer?
NR_024514.3:n.1643_1644del