Canonical Allele Identifier: CA2692371127

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436871-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436872_133436874del , CM000671.2:g.133436872_133436874del	GRCh38
NC_000009.10:g.135291813_135291815del	NCBI36
NG_011934.2:g.27534_27536del , LRG_544:g.27534_27536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1352_1354del MANE Select	ENSP00000347927.2:p.Ala451_Arg452delinsGly
ENST00000355699.6:c.1352_1354del	ENSP00000347927.2:p.Ala451_Arg452delinsGly
ENST00000356589.6:c.1259_1261del	ENSP00000348997.2:p.Ala420_Arg421delinsGly
ENST00000371916.5:c.608_610del	ENSP00000360984.2:p.Ala203_Arg204delinsGly
ENST00000371929.7:c.1352_1354del	ENSP00000360997.3:p.Ala451_Arg452delinsGly
ENST00000474918.1:c.*156_*158del	ENSP00000435305.1:n.*156_*158del
ENST00000485925.5:n.974-2494_974-2492del
ENST00000495234.5:c.*636_*638del	ENSP00000435274.1:n.*636_*638del
NM_139025.4:c.1352_1354del , LRG_544t1:c.1352_1354del	NP_620594.1:p.Ala451_Arg452delinsGly
NM_139026.4:c.1259_1261del	NP_620595.1:p.Ala420_Arg421delinsGly
NM_139027.4:c.1352_1354del	NP_620596.2:p.Ala451_Arg452delinsGly
NR_024514.2:n.993-2494_993-2492del
XM_011518174.1:c.962_964del	XP_011516476.1:p.Ala321_Arg322delinsGly
XM_011518175.1:c.1352_1354del	XP_011516477.1:p.Ala451_Arg452delinsGly
XM_011518176.1:c.368_370del	XP_011516478.1:p.Ala123_Arg124delinsGly
XM_011518177.1:c.362_364del	XP_011516479.1:p.Ala121_Arg122delinsGly
XM_011518178.1:c.17_19del	XP_011516480.1:p.Ala6_Arg7delinsGly
XM_011518179.1:c.138_140del	XP_011516481.1:p.Gln47del
XM_011518180.1:c.687-7991_687-7989del	XP_011516482.1:n.687-7991_687-7989del
XM_011518176.3:c.368_370del	XP_011516478.1:p.Ala123_Arg124delinsGly
XM_011518178.2:c.17_19del	XP_011516480.1:p.Ala6_Arg7delinsGly
XM_017014232.1:c.1340_1342del	XP_016869721.1:p.Ala447_Arg448delinsGly
XM_017014233.1:c.962_964del	XP_016869722.1:p.Ala321_Arg322delinsGly
XM_017014234.2:c.362_364del	XP_016869723.1:p.Ala121_Arg122delinsGly
XM_017014235.1:c.1352_1354del	XP_016869724.1:p.Ala451_Arg452delinsGly
XR_001746171.1:n.2577_2579del
NM_139026.5:c.1259_1261del	NP_620595.1:p.Ala420_Arg421delinsGly
NM_139027.5:c.1352_1354del	NP_620596.2:p.Ala451_Arg452delinsGly
NM_139025.5:c.1352_1354del	NP_620594.1:p.Ala451_Arg452delinsGly
NM_139026.6:c.1259_1261del	NP_620595.1:p.Ala420_Arg421delinsGly
NM_139027.6:c.1352_1354del MANE Select	NP_620596.2:p.Ala451_Arg452delinsGly
NR_024514.3:n.995-2494_995-2492del