Canonical Allele Identifier: CA2692369430

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436776-A-AGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436776_133436777insGGGG , CM000671.2:g.133436776_133436777insGGGG	GRCh38
NC_000009.10:g.135291717_135291718insGGGG	NCBI36
NG_011934.2:g.27438_27439insGGGG , LRG_544:g.27438_27439insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-53_1309-52insGGGG MANE Select	ENSP00000347927.2:n.1309-53_1309-52insGGGG
ENST00000355699.6:c.1309-53_1309-52insGGGG	ENSP00000347927.2:n.1309-53_1309-52insGGGG
ENST00000356589.6:c.1216-53_1216-52insGGGG	ENSP00000348997.2:n.1216-53_1216-52insGGGG
ENST00000371916.5:c.565-53_565-52insGGGG	ENSP00000360984.2:n.565-53_565-52insGGGG
ENST00000371929.7:c.1309-53_1309-52insGGGG	ENSP00000360997.3:n.1309-53_1309-52insGGGG
ENST00000474918.1:c.*113-53_*113-52insGGGG	ENSP00000435305.1:n.*113-53_*113-52insGGGG
ENST00000485925.5:n.974-2590_974-2589insGGGG
ENST00000495234.5:c.*593-53_*593-52insGGGG	ENSP00000435274.1:n.*593-53_*593-52insGGGG
NM_139025.4:c.1309-53_1309-52insGGGG , LRG_544t1:c.1309-53_1309-52insGGGG	NP_620594.1:n.1309-53_1309-52insGGGG
NM_139026.4:c.1216-53_1216-52insGGGG	NP_620595.1:n.1216-53_1216-52insGGGG
NM_139027.4:c.1309-53_1309-52insGGGG	NP_620596.2:n.1309-53_1309-52insGGGG
NR_024514.2:n.993-2590_993-2589insGGGG
XM_011518174.1:c.919-53_919-52insGGGG	XP_011516476.1:n.919-53_919-52insGGGG
XM_011518175.1:c.1309-53_1309-52insGGGG	XP_011516477.1:n.1309-53_1309-52insGGGG
XM_011518176.1:c.325-53_325-52insGGGG	XP_011516478.1:n.325-53_325-52insGGGG
XM_011518177.1:c.319-53_319-52insGGGG	XP_011516479.1:n.319-53_319-52insGGGG
XM_011518178.1:c.-27-53_-27-52insGGGG	XP_011516480.1:n.-27-53_-27-52insGGGG
XM_011518179.1:c.95-53_95-52insGGGG	XP_011516481.1:n.95-53_95-52insGGGG
XM_011518180.1:c.687-8087_687-8086insGGGG	XP_011516482.1:n.687-8087_687-8086insGGGG
XM_011518176.3:c.325-53_325-52insGGGG	XP_011516478.1:n.325-53_325-52insGGGG
XM_011518178.2:c.-27-53_-27-52insGGGG	XP_011516480.1:n.-27-53_-27-52insGGGG
XM_017014232.1:c.1297-53_1297-52insGGGG	XP_016869721.1:n.1297-53_1297-52insGGGG
XM_017014233.1:c.919-53_919-52insGGGG	XP_016869722.1:n.919-53_919-52insGGGG
XM_017014234.2:c.319-53_319-52insGGGG	XP_016869723.1:n.319-53_319-52insGGGG
XM_017014235.1:c.1309-53_1309-52insGGGG	XP_016869724.1:n.1309-53_1309-52insGGGG
XR_001746171.1:n.2534-53_2534-52insGGGG
NM_139026.5:c.1216-53_1216-52insGGGG	NP_620595.1:n.1216-53_1216-52insGGGG
NM_139027.5:c.1309-53_1309-52insGGGG	NP_620596.2:n.1309-53_1309-52insGGGG
NM_139025.5:c.1309-53_1309-52insGGGG	NP_620594.1:n.1309-53_1309-52insGGGG
NM_139026.6:c.1216-53_1216-52insGGGG	NP_620595.1:n.1216-53_1216-52insGGGG
NM_139027.6:c.1309-53_1309-52insGGGG MANE Select	NP_620596.2:n.1309-53_1309-52insGGGG
NR_024514.3:n.995-2590_995-2589insGGGG