Canonical Allele Identifier: CA2692370903

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436829-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436830_133436832del , CM000671.2:g.133436830_133436832del	GRCh38
NC_000009.10:g.135291771_135291773del	NCBI36
NG_011934.2:g.27492_27494del , LRG_544:g.27492_27494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1310_1312del MANE Select	ENSP00000347927.2:p.Ala437_Cys438delinsGly
ENST00000355699.6:c.1310_1312del	ENSP00000347927.2:p.Ala437_Cys438delinsGly
ENST00000356589.6:c.1217_1219del	ENSP00000348997.2:p.Ala406_Cys407delinsGly
ENST00000371916.5:c.566_568del	ENSP00000360984.2:p.Ala189_Cys190delinsGly
ENST00000371929.7:c.1310_1312del	ENSP00000360997.3:p.Ala437_Cys438delinsGly
ENST00000474918.1:c.*114_*116del	ENSP00000435305.1:n.*114_*116del
ENST00000485925.5:n.974-2536_974-2534del
ENST00000495234.5:c.*594_*596del	ENSP00000435274.1:n.*594_*596del
NM_139025.4:c.1310_1312del , LRG_544t1:c.1310_1312del	NP_620594.1:p.Ala437_Cys438delinsGly
NM_139026.4:c.1217_1219del	NP_620595.1:p.Ala406_Cys407delinsGly
NM_139027.4:c.1310_1312del	NP_620596.2:p.Ala437_Cys438delinsGly
NR_024514.2:n.993-2536_993-2534del
XM_011518174.1:c.920_922del	XP_011516476.1:p.Ala307_Cys308delinsGly
XM_011518175.1:c.1310_1312del	XP_011516477.1:p.Ala437_Cys438delinsGly
XM_011518176.1:c.326_328del	XP_011516478.1:p.Ala109_Cys110delinsGly
XM_011518177.1:c.320_322del	XP_011516479.1:p.Ala107_Cys108delinsGly
XM_011518178.1:c.-26_-24del	XP_011516480.1:n.-26_-24del
XM_011518179.1:c.96_98del	XP_011516481.1:p.Leu33del
XM_011518180.1:c.687-8033_687-8031del	XP_011516482.1:n.687-8033_687-8031del
XM_011518176.3:c.326_328del	XP_011516478.1:p.Ala109_Cys110delinsGly
XM_011518178.2:c.-26_-24del	XP_011516480.1:n.-26_-24del
XM_017014232.1:c.1298_1300del	XP_016869721.1:p.Ala433_Cys434delinsGly
XM_017014233.1:c.920_922del	XP_016869722.1:p.Ala307_Cys308delinsGly
XM_017014234.2:c.320_322del	XP_016869723.1:p.Ala107_Cys108delinsGly
XM_017014235.1:c.1310_1312del	XP_016869724.1:p.Ala437_Cys438delinsGly
XR_001746171.1:n.2535_2537del
NM_139026.5:c.1217_1219del	NP_620595.1:p.Ala406_Cys407delinsGly
NM_139027.5:c.1310_1312del	NP_620596.2:p.Ala437_Cys438delinsGly
NM_139025.5:c.1310_1312del	NP_620594.1:p.Ala437_Cys438delinsGly
NM_139026.6:c.1217_1219del	NP_620595.1:p.Ala406_Cys407delinsGly
NM_139027.6:c.1310_1312del MANE Select	NP_620596.2:p.Ala437_Cys438delinsGly
NR_024514.3:n.995-2536_995-2534del