Canonical Allele Identifier: CA2692369838

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436777-C-CGGCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436777_133436778insGGCGGG , CM000671.2:g.133436777_133436778insGGCGGG	GRCh38
NC_000009.10:g.135291718_135291719insGGCGGG	NCBI36
NG_011934.2:g.27439_27440insGGCGGG , LRG_544:g.27439_27440insGGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-52_1309-51insGGCGGG MANE Select	ENSP00000347927.2:n.1309-52_1309-51insGGCGGG
ENST00000355699.6:c.1309-52_1309-51insGGCGGG	ENSP00000347927.2:n.1309-52_1309-51insGGCGGG
ENST00000356589.6:c.1216-52_1216-51insGGCGGG	ENSP00000348997.2:n.1216-52_1216-51insGGCGGG
ENST00000371916.5:c.565-52_565-51insGGCGGG	ENSP00000360984.2:n.565-52_565-51insGGCGGG
ENST00000371929.7:c.1309-52_1309-51insGGCGGG	ENSP00000360997.3:n.1309-52_1309-51insGGCGGG
ENST00000474918.1:c.*113-52_*113-51insGGCGGG	ENSP00000435305.1:n.*113-52_*113-51insGGCGGG
ENST00000485925.5:n.974-2589_974-2588insGGCGGG
ENST00000495234.5:c.*593-52_*593-51insGGCGGG	ENSP00000435274.1:n.*593-52_*593-51insGGCGGG
NM_139025.4:c.1309-52_1309-51insGGCGGG , LRG_544t1:c.1309-52_1309-51insGGCGGG	NP_620594.1:n.1309-52_1309-51insGGCGGG
NM_139026.4:c.1216-52_1216-51insGGCGGG	NP_620595.1:n.1216-52_1216-51insGGCGGG
NM_139027.4:c.1309-52_1309-51insGGCGGG	NP_620596.2:n.1309-52_1309-51insGGCGGG
NR_024514.2:n.993-2589_993-2588insGGCGGG
XM_011518174.1:c.919-52_919-51insGGCGGG	XP_011516476.1:n.919-52_919-51insGGCGGG
XM_011518175.1:c.1309-52_1309-51insGGCGGG	XP_011516477.1:n.1309-52_1309-51insGGCGGG
XM_011518176.1:c.325-52_325-51insGGCGGG	XP_011516478.1:n.325-52_325-51insGGCGGG
XM_011518177.1:c.319-52_319-51insGGCGGG	XP_011516479.1:n.319-52_319-51insGGCGGG
XM_011518178.1:c.-27-52_-27-51insGGCGGG	XP_011516480.1:n.-27-52_-27-51insGGCGGG
XM_011518179.1:c.95-52_95-51insGGCGGG	XP_011516481.1:n.95-52_95-51insGGCGGG
XM_011518180.1:c.687-8086_687-8085insGGCGGG	XP_011516482.1:n.687-8086_687-8085insGGCGGG
XM_011518176.3:c.325-52_325-51insGGCGGG	XP_011516478.1:n.325-52_325-51insGGCGGG
XM_011518178.2:c.-27-52_-27-51insGGCGGG	XP_011516480.1:n.-27-52_-27-51insGGCGGG
XM_017014232.1:c.1297-52_1297-51insGGCGGG	XP_016869721.1:n.1297-52_1297-51insGGCGGG
XM_017014233.1:c.919-52_919-51insGGCGGG	XP_016869722.1:n.919-52_919-51insGGCGGG
XM_017014234.2:c.319-52_319-51insGGCGGG	XP_016869723.1:n.319-52_319-51insGGCGGG
XM_017014235.1:c.1309-52_1309-51insGGCGGG	XP_016869724.1:n.1309-52_1309-51insGGCGGG
XR_001746171.1:n.2534-52_2534-51insGGCGGG
NM_139026.5:c.1216-52_1216-51insGGCGGG	NP_620595.1:n.1216-52_1216-51insGGCGGG
NM_139027.5:c.1309-52_1309-51insGGCGGG	NP_620596.2:n.1309-52_1309-51insGGCGGG
NM_139025.5:c.1309-52_1309-51insGGCGGG	NP_620594.1:n.1309-52_1309-51insGGCGGG
NM_139026.6:c.1216-52_1216-51insGGCGGG	NP_620595.1:n.1216-52_1216-51insGGCGGG
NM_139027.6:c.1309-52_1309-51insGGCGGG MANE Select	NP_620596.2:n.1309-52_1309-51insGGCGGG
NR_024514.3:n.995-2589_995-2588insGGCGGG