Canonical Allele Identifier: CA2692371198

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436884-GCCAGCCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436885_133436893del , CM000671.2:g.133436885_133436893del	GRCh38
NC_000009.10:g.135291826_135291834del	NCBI36
NG_011934.2:g.27547_27555del , LRG_544:g.27547_27555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1365_1373del MANE Select	ENSP00000347927.2:p.Gln456_Leu458del
ENST00000355699.6:c.1365_1373del	ENSP00000347927.2:p.Gln456_Leu458del
ENST00000356589.6:c.1272_1280del	ENSP00000348997.2:p.Gln425_Leu427del
ENST00000371916.5:c.621_629del	ENSP00000360984.2:p.Gln208_Leu210del
ENST00000371929.7:c.1365_1373del	ENSP00000360997.3:p.Gln456_Leu458del
ENST00000474918.1:c.*169_*177del	ENSP00000435305.1:n.*169_*177del
ENST00000485925.5:n.974-2481_974-2473del
ENST00000495234.5:c.*649_*657del	ENSP00000435274.1:n.*649_*657del
NM_139025.4:c.1365_1373del , LRG_544t1:c.1365_1373del	NP_620594.1:p.Gln456_Leu458del
NM_139026.4:c.1272_1280del	NP_620595.1:p.Gln425_Leu427del
NM_139027.4:c.1365_1373del	NP_620596.2:p.Gln456_Leu458del
NR_024514.2:n.993-2481_993-2473del
XM_011518174.1:c.975_983del	XP_011516476.1:p.Gln326_Leu328del
XM_011518175.1:c.1365_1373del	XP_011516477.1:p.Gln456_Leu458del
XM_011518176.1:c.381_389del	XP_011516478.1:p.Gln128_Leu130del
XM_011518177.1:c.375_383del	XP_011516479.1:p.Gln126_Leu128del
XM_011518178.1:c.30_38del	XP_011516480.1:p.Gln11_Leu13del
XM_011518179.1:c.151_159del	XP_011516481.1:p.Pro51_Ala53del
XM_011518180.1:c.687-7978_687-7970del	XP_011516482.1:n.687-7978_687-7970del
XM_011518176.3:c.381_389del	XP_011516478.1:p.Gln128_Leu130del
XM_011518178.2:c.30_38del	XP_011516480.1:p.Gln11_Leu13del
XM_017014232.1:c.1353_1361del	XP_016869721.1:p.Gln452_Leu454del
XM_017014233.1:c.975_983del	XP_016869722.1:p.Gln326_Leu328del
XM_017014234.2:c.375_383del	XP_016869723.1:p.Gln126_Leu128del
XM_017014235.1:c.1365_1373del	XP_016869724.1:p.Gln456_Leu458del
XR_001746171.1:n.2590_2598del
NM_139026.5:c.1272_1280del	NP_620595.1:p.Gln425_Leu427del
NM_139027.5:c.1365_1373del	NP_620596.2:p.Gln456_Leu458del
NM_139025.5:c.1365_1373del	NP_620594.1:p.Gln456_Leu458del
NM_139026.6:c.1272_1280del	NP_620595.1:p.Gln425_Leu427del
NM_139027.6:c.1365_1373del MANE Select	NP_620596.2:p.Gln456_Leu458del
NR_024514.3:n.995-2481_995-2473del