Canonical Allele Identifier: CA2692368602

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436771-T-TGCCCCGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGG , CM000671.2:g.133436772_133436773insCCCCGGGGGGGGGGGGGGGGGG	GRCh38
NC_000009.10:g.135291713_135291714insCCCCGGGGGGGGGGGGGGGGGG	NCBI36
NG_011934.2:g.27434_27435insCCCCGGGGGGGGGGGGGGGGGG , LRG_544:g.27434_27435insCCCCGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000347927.2:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000355699.6:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000347927.2:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000356589.6:c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000348997.2:n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000371916.5:c.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000360984.2:n.565-57_565-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000371929.7:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000360997.3:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000474918.1:c.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000435305.1:n.*113-57_*113-56insCCCCGGGGGGGGGGGGGGGGGG
ENST00000485925.5:n.974-2594_974-2593insCCCCGGGGGGGGGGGGGGGGGG
ENST00000495234.5:c.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGG	ENSP00000435274.1:n.*593-57_*593-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139025.4:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG , LRG_544t1:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620594.1:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139026.4:c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620595.1:n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139027.4:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620596.2:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
NR_024514.2:n.993-2594_993-2593insCCCCGGGGGGGGGGGGGGGGGG
XM_011518174.1:c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516476.1:n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518175.1:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516477.1:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518176.1:c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516478.1:n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518177.1:c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516479.1:n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518178.1:c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516480.1:n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518179.1:c.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516481.1:n.95-57_95-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518180.1:c.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGG	XP_011516482.1:n.687-8091_687-8090insCCCCGGGGGGGGGGGGGGGGGG
XM_011518176.3:c.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516478.1:n.325-57_325-56insCCCCGGGGGGGGGGGGGGGGGG
XM_011518178.2:c.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG	XP_011516480.1:n.-27-57_-27-56insCCCCGGGGGGGGGGGGGGGGGG
XM_017014232.1:c.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGG	XP_016869721.1:n.1297-57_1297-56insCCCCGGGGGGGGGGGGGGGGGG
XM_017014233.1:c.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG	XP_016869722.1:n.919-57_919-56insCCCCGGGGGGGGGGGGGGGGGG
XM_017014234.2:c.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG	XP_016869723.1:n.319-57_319-56insCCCCGGGGGGGGGGGGGGGGGG
XM_017014235.1:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	XP_016869724.1:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
XR_001746171.1:n.2534-57_2534-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139026.5:c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620595.1:n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139027.5:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620596.2:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139025.5:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620594.1:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139026.6:c.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG	NP_620595.1:n.1216-57_1216-56insCCCCGGGGGGGGGGGGGGGGGG
NM_139027.6:c.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG MANE Select	NP_620596.2:n.1309-57_1309-56insCCCCGGGGGGGGGGGGGGGGGG
NR_024514.3:n.995-2594_995-2593insCCCCGGGGGGGGGGGGGGGGGG