Canonical Allele Identifier: CA2692370100

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436778-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436779_133436781del , CM000671.2:g.133436779_133436781del	GRCh38
NC_000009.10:g.135291720_135291722del	NCBI36
NG_011934.2:g.27441_27443del , LRG_544:g.27441_27443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-50_1309-48del MANE Select	ENSP00000347927.2:n.1309-50_1309-48del
ENST00000355699.6:c.1309-50_1309-48del	ENSP00000347927.2:n.1309-50_1309-48del
ENST00000356589.6:c.1216-50_1216-48del	ENSP00000348997.2:n.1216-50_1216-48del
ENST00000371916.5:c.565-50_565-48del	ENSP00000360984.2:n.565-50_565-48del
ENST00000371929.7:c.1309-50_1309-48del	ENSP00000360997.3:n.1309-50_1309-48del
ENST00000474918.1:c.*113-50_*113-48del	ENSP00000435305.1:n.*113-50_*113-48del
ENST00000485925.5:n.974-2587_974-2585del
ENST00000495234.5:c.*593-50_*593-48del	ENSP00000435274.1:n.*593-50_*593-48del
NM_139025.4:c.1309-50_1309-48del , LRG_544t1:c.1309-50_1309-48del	NP_620594.1:n.1309-50_1309-48del
NM_139026.4:c.1216-50_1216-48del	NP_620595.1:n.1216-50_1216-48del
NM_139027.4:c.1309-50_1309-48del	NP_620596.2:n.1309-50_1309-48del
NR_024514.2:n.993-2587_993-2585del
XM_011518174.1:c.919-50_919-48del	XP_011516476.1:n.919-50_919-48del
XM_011518175.1:c.1309-50_1309-48del	XP_011516477.1:n.1309-50_1309-48del
XM_011518176.1:c.325-50_325-48del	XP_011516478.1:n.325-50_325-48del
XM_011518177.1:c.319-50_319-48del	XP_011516479.1:n.319-50_319-48del
XM_011518178.1:c.-27-50_-27-48del	XP_011516480.1:n.-27-50_-27-48del
XM_011518179.1:c.95-50_95-48del	XP_011516481.1:n.95-50_95-48del
XM_011518180.1:c.687-8084_687-8082del	XP_011516482.1:n.687-8084_687-8082del
XM_011518176.3:c.325-50_325-48del	XP_011516478.1:n.325-50_325-48del
XM_011518178.2:c.-27-50_-27-48del	XP_011516480.1:n.-27-50_-27-48del
XM_017014232.1:c.1297-50_1297-48del	XP_016869721.1:n.1297-50_1297-48del
XM_017014233.1:c.919-50_919-48del	XP_016869722.1:n.919-50_919-48del
XM_017014234.2:c.319-50_319-48del	XP_016869723.1:n.319-50_319-48del
XM_017014235.1:c.1309-50_1309-48del	XP_016869724.1:n.1309-50_1309-48del
XR_001746171.1:n.2534-50_2534-48del
NM_139026.5:c.1216-50_1216-48del	NP_620595.1:n.1216-50_1216-48del
NM_139027.5:c.1309-50_1309-48del	NP_620596.2:n.1309-50_1309-48del
NM_139025.5:c.1309-50_1309-48del	NP_620594.1:n.1309-50_1309-48del
NM_139026.6:c.1216-50_1216-48del	NP_620595.1:n.1216-50_1216-48del
NM_139027.6:c.1309-50_1309-48del MANE Select	NP_620596.2:n.1309-50_1309-48del
NR_024514.3:n.995-2587_995-2585del