Canonical Allele Identifier: CA2692370639

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436796-C-CCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436796_133436797insCCCCT , CM000671.2:g.133436796_133436797insCCCCT	GRCh38
NC_000009.10:g.135291737_135291738insCCCCT	NCBI36
NG_011934.2:g.27458_27459insCCCCT , LRG_544:g.27458_27459insCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-33_1309-32insCCCCT MANE Select	ENSP00000347927.2:n.1309-33_1309-32insCCCCT
ENST00000355699.6:c.1309-33_1309-32insCCCCT	ENSP00000347927.2:n.1309-33_1309-32insCCCCT
ENST00000356589.6:c.1216-33_1216-32insCCCCT	ENSP00000348997.2:n.1216-33_1216-32insCCCCT
ENST00000371916.5:c.565-33_565-32insCCCCT	ENSP00000360984.2:n.565-33_565-32insCCCCT
ENST00000371929.7:c.1309-33_1309-32insCCCCT	ENSP00000360997.3:n.1309-33_1309-32insCCCCT
ENST00000474918.1:c.*113-33_*113-32insCCCCT	ENSP00000435305.1:n.*113-33_*113-32insCCCCT
ENST00000485925.5:n.974-2570_974-2569insCCCCT
ENST00000495234.5:c.*593-33_*593-32insCCCCT	ENSP00000435274.1:n.*593-33_*593-32insCCCCT
NM_139025.4:c.1309-33_1309-32insCCCCT , LRG_544t1:c.1309-33_1309-32insCCCCT	NP_620594.1:n.1309-33_1309-32insCCCCT
NM_139026.4:c.1216-33_1216-32insCCCCT	NP_620595.1:n.1216-33_1216-32insCCCCT
NM_139027.4:c.1309-33_1309-32insCCCCT	NP_620596.2:n.1309-33_1309-32insCCCCT
NR_024514.2:n.993-2570_993-2569insCCCCT
XM_011518174.1:c.919-33_919-32insCCCCT	XP_011516476.1:n.919-33_919-32insCCCCT
XM_011518175.1:c.1309-33_1309-32insCCCCT	XP_011516477.1:n.1309-33_1309-32insCCCCT
XM_011518176.1:c.325-33_325-32insCCCCT	XP_011516478.1:n.325-33_325-32insCCCCT
XM_011518177.1:c.319-33_319-32insCCCCT	XP_011516479.1:n.319-33_319-32insCCCCT
XM_011518178.1:c.-27-33_-27-32insCCCCT	XP_011516480.1:n.-27-33_-27-32insCCCCT
XM_011518179.1:c.95-33_95-32insCCCCT	XP_011516481.1:n.95-33_95-32insCCCCT
XM_011518180.1:c.687-8067_687-8066insCCCCT	XP_011516482.1:n.687-8067_687-8066insCCCCT
XM_011518176.3:c.325-33_325-32insCCCCT	XP_011516478.1:n.325-33_325-32insCCCCT
XM_011518178.2:c.-27-33_-27-32insCCCCT	XP_011516480.1:n.-27-33_-27-32insCCCCT
XM_017014232.1:c.1297-33_1297-32insCCCCT	XP_016869721.1:n.1297-33_1297-32insCCCCT
XM_017014233.1:c.919-33_919-32insCCCCT	XP_016869722.1:n.919-33_919-32insCCCCT
XM_017014234.2:c.319-33_319-32insCCCCT	XP_016869723.1:n.319-33_319-32insCCCCT
XM_017014235.1:c.1309-33_1309-32insCCCCT	XP_016869724.1:n.1309-33_1309-32insCCCCT
XR_001746171.1:n.2534-33_2534-32insCCCCT
NM_139026.5:c.1216-33_1216-32insCCCCT	NP_620595.1:n.1216-33_1216-32insCCCCT
NM_139027.5:c.1309-33_1309-32insCCCCT	NP_620596.2:n.1309-33_1309-32insCCCCT
NM_139025.5:c.1309-33_1309-32insCCCCT	NP_620594.1:n.1309-33_1309-32insCCCCT
NM_139026.6:c.1216-33_1216-32insCCCCT	NP_620595.1:n.1216-33_1216-32insCCCCT
NM_139027.6:c.1309-33_1309-32insCCCCT MANE Select	NP_620596.2:n.1309-33_1309-32insCCCCT
NR_024514.3:n.995-2570_995-2569insCCCCT