Canonical Allele Identifier: CA2692368380

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436765-TCCCAGTGACAACACCCGCCCCCCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436770_133436794del , CM000671.2:g.133436770_133436794del	GRCh38
NC_000009.10:g.135291711_135291735del	NCBI36
NG_011934.2:g.27432_27456del , LRG_544:g.27432_27456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1309-59_1309-35del MANE Select	ENSP00000347927.2:n.1309-59_1309-35del
ENST00000355699.6:c.1309-59_1309-35del	ENSP00000347927.2:n.1309-59_1309-35del
ENST00000356589.6:c.1216-59_1216-35del	ENSP00000348997.2:n.1216-59_1216-35del
ENST00000371916.5:c.565-59_565-35del	ENSP00000360984.2:n.565-59_565-35del
ENST00000371929.7:c.1309-59_1309-35del	ENSP00000360997.3:n.1309-59_1309-35del
ENST00000474918.1:c.*113-59_*113-35del	ENSP00000435305.1:n.*113-59_*113-35del
ENST00000485925.5:n.974-2596_974-2572del
ENST00000495234.5:c.*593-59_*593-35del	ENSP00000435274.1:n.*593-59_*593-35del
NM_139025.4:c.1309-59_1309-35del , LRG_544t1:c.1309-59_1309-35del	NP_620594.1:n.1309-59_1309-35del
NM_139026.4:c.1216-59_1216-35del	NP_620595.1:n.1216-59_1216-35del
NM_139027.4:c.1309-59_1309-35del	NP_620596.2:n.1309-59_1309-35del
NR_024514.2:n.993-2596_993-2572del
XM_011518174.1:c.919-59_919-35del	XP_011516476.1:n.919-59_919-35del
XM_011518175.1:c.1309-59_1309-35del	XP_011516477.1:n.1309-59_1309-35del
XM_011518176.1:c.325-59_325-35del	XP_011516478.1:n.325-59_325-35del
XM_011518177.1:c.319-59_319-35del	XP_011516479.1:n.319-59_319-35del
XM_011518178.1:c.-27-59_-27-35del	XP_011516480.1:n.-27-59_-27-35del
XM_011518179.1:c.95-59_95-35del	XP_011516481.1:n.95-59_95-35del
XM_011518180.1:c.687-8093_687-8069del	XP_011516482.1:n.687-8093_687-8069del
XM_011518176.3:c.325-59_325-35del	XP_011516478.1:n.325-59_325-35del
XM_011518178.2:c.-27-59_-27-35del	XP_011516480.1:n.-27-59_-27-35del
XM_017014232.1:c.1297-59_1297-35del	XP_016869721.1:n.1297-59_1297-35del
XM_017014233.1:c.919-59_919-35del	XP_016869722.1:n.919-59_919-35del
XM_017014234.2:c.319-59_319-35del	XP_016869723.1:n.319-59_319-35del
XM_017014235.1:c.1309-59_1309-35del	XP_016869724.1:n.1309-59_1309-35del
XR_001746171.1:n.2534-59_2534-35del
NM_139026.5:c.1216-59_1216-35del	NP_620595.1:n.1216-59_1216-35del
NM_139027.5:c.1309-59_1309-35del	NP_620596.2:n.1309-59_1309-35del
NM_139025.5:c.1309-59_1309-35del	NP_620594.1:n.1309-59_1309-35del
NM_139026.6:c.1216-59_1216-35del	NP_620595.1:n.1216-59_1216-35del
NM_139027.6:c.1309-59_1309-35del MANE Select	NP_620596.2:n.1309-59_1309-35del
NR_024514.3:n.995-2596_995-2572del