Canonical Allele Identifier: CA2786169599

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436841_133436845del , CM000671.2:g.133436841_133436845del	GRCh38
NC_000009.10:g.135291782_135291786del	NCBI36
NG_011934.2:g.27503_27507del , LRG_544:g.27503_27507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1321_1325del MANE Select	ENSP00000347927.2:p.Thr441AlafsTer?
ENST00000355699.6:c.1321_1325del	ENSP00000347927.2:p.Thr441AlafsTer?
ENST00000356589.6:c.1228_1232del	ENSP00000348997.2:p.Thr410AlafsTer?
ENST00000371916.5:c.577_581del	ENSP00000360984.2:p.Thr193AlafsTer?
ENST00000371929.7:c.1321_1325del	ENSP00000360997.3:p.Thr441AlafsTer?
ENST00000474918.1:c.*125_*129del	ENSP00000435305.1:n.*125_*129del
ENST00000485925.5:n.974-2525_974-2521del
ENST00000495234.5:c.*605_*609del	ENSP00000435274.1:n.*605_*609del
NM_139025.4:c.1321_1325del , LRG_544t1:c.1321_1325del	NP_620594.1:p.Thr441AlafsTer?
NM_139026.4:c.1228_1232del	NP_620595.1:p.Thr410AlafsTer?
NM_139027.4:c.1321_1325del	NP_620596.2:p.Thr441AlafsTer?
NR_024514.2:n.993-2525_993-2521del
XM_011518174.1:c.931_935del	XP_011516476.1:p.Thr311AlafsTer?
XM_011518175.1:c.1321_1325del	XP_011516477.1:p.Thr441AlafsTer?
XM_011518176.1:c.337_341del	XP_011516478.1:p.Thr113AlafsTer?
XM_011518177.1:c.331_335del	XP_011516479.1:p.Thr111AlafsTer?
XM_011518178.1:c.-15_-11del	XP_011516480.1:n.-15_-11del
XM_011518179.1:c.107_111del	XP_011516481.1:p.Asp36GlyfsTer?
XM_011518180.1:c.687-8022_687-8018del	XP_011516482.1:n.687-8022_687-8018del
XM_011518176.3:c.337_341del	XP_011516478.1:p.Thr113AlafsTer?
XM_011518178.2:c.-15_-11del	XP_011516480.1:n.-15_-11del
XM_017014232.1:c.1309_1313del	XP_016869721.1:p.Thr437AlafsTer?
XM_017014233.1:c.931_935del	XP_016869722.1:p.Thr311AlafsTer?
XM_017014234.2:c.331_335del	XP_016869723.1:p.Thr111AlafsTer?
XM_017014235.1:c.1321_1325del	XP_016869724.1:p.Thr441AlafsTer?
XR_001746171.1:n.2546_2550del
NM_139026.5:c.1228_1232del	NP_620595.1:p.Thr410AlafsTer?
NM_139027.5:c.1321_1325del	NP_620596.2:p.Thr441AlafsTer?
NM_139025.5:c.1321_1325del	NP_620594.1:p.Thr441AlafsTer?
NM_139026.6:c.1228_1232del	NP_620595.1:p.Thr410AlafsTer?
NM_139027.6:c.1321_1325del MANE Select	NP_620596.2:p.Thr441AlafsTer?
NR_024514.3:n.995-2525_995-2521del