Canonical Allele Identifier: CA2692370439

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436781-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436781_133436782insA , CM000671.2:g.133436781_133436782insA	GRCh38
NC_000009.10:g.135291722_135291723insA	NCBI36
NG_011934.2:g.27443_27444insA , LRG_544:g.27443_27444insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-48_1309-47insA MANE Select	ENSP00000347927.2:n.1309-48_1309-47insA
ENST00000355699.6:c.1309-48_1309-47insA	ENSP00000347927.2:n.1309-48_1309-47insA
ENST00000356589.6:c.1216-48_1216-47insA	ENSP00000348997.2:n.1216-48_1216-47insA
ENST00000371916.5:c.565-48_565-47insA	ENSP00000360984.2:n.565-48_565-47insA
ENST00000371929.7:c.1309-48_1309-47insA	ENSP00000360997.3:n.1309-48_1309-47insA
ENST00000474918.1:c.*113-48_*113-47insA	ENSP00000435305.1:n.*113-48_*113-47insA
ENST00000485925.5:n.974-2585_974-2584insA
ENST00000495234.5:c.*593-48_*593-47insA	ENSP00000435274.1:n.*593-48_*593-47insA
NM_139025.4:c.1309-48_1309-47insA , LRG_544t1:c.1309-48_1309-47insA	NP_620594.1:n.1309-48_1309-47insA
NM_139026.4:c.1216-48_1216-47insA	NP_620595.1:n.1216-48_1216-47insA
NM_139027.4:c.1309-48_1309-47insA	NP_620596.2:n.1309-48_1309-47insA
NR_024514.2:n.993-2585_993-2584insA
XM_011518174.1:c.919-48_919-47insA	XP_011516476.1:n.919-48_919-47insA
XM_011518175.1:c.1309-48_1309-47insA	XP_011516477.1:n.1309-48_1309-47insA
XM_011518176.1:c.325-48_325-47insA	XP_011516478.1:n.325-48_325-47insA
XM_011518177.1:c.319-48_319-47insA	XP_011516479.1:n.319-48_319-47insA
XM_011518178.1:c.-27-48_-27-47insA	XP_011516480.1:n.-27-48_-27-47insA
XM_011518179.1:c.95-48_95-47insA	XP_011516481.1:n.95-48_95-47insA
XM_011518180.1:c.687-8082_687-8081insA	XP_011516482.1:n.687-8082_687-8081insA
XM_011518176.3:c.325-48_325-47insA	XP_011516478.1:n.325-48_325-47insA
XM_011518178.2:c.-27-48_-27-47insA	XP_011516480.1:n.-27-48_-27-47insA
XM_017014232.1:c.1297-48_1297-47insA	XP_016869721.1:n.1297-48_1297-47insA
XM_017014233.1:c.919-48_919-47insA	XP_016869722.1:n.919-48_919-47insA
XM_017014234.2:c.319-48_319-47insA	XP_016869723.1:n.319-48_319-47insA
XM_017014235.1:c.1309-48_1309-47insA	XP_016869724.1:n.1309-48_1309-47insA
XR_001746171.1:n.2534-48_2534-47insA
NM_139026.5:c.1216-48_1216-47insA	NP_620595.1:n.1216-48_1216-47insA
NM_139027.5:c.1309-48_1309-47insA	NP_620596.2:n.1309-48_1309-47insA
NM_139025.5:c.1309-48_1309-47insA	NP_620594.1:n.1309-48_1309-47insA
NM_139026.6:c.1216-48_1216-47insA	NP_620595.1:n.1216-48_1216-47insA
NM_139027.6:c.1309-48_1309-47insA MANE Select	NP_620596.2:n.1309-48_1309-47insA
NR_024514.3:n.995-2585_995-2584insA