Canonical Allele Identifier: CA2579500365

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436778-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436778_133436779insAC , CM000671.2:g.133436778_133436779insAC	GRCh38
NC_000009.10:g.135291719_135291720insAC	NCBI36
NG_011934.2:g.27440_27441insAC , LRG_544:g.27440_27441insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1309-51_1309-50insAC MANE Select	ENSP00000347927.2:n.1309-51_1309-50insAC
ENST00000355699.6:c.1309-51_1309-50insAC	ENSP00000347927.2:n.1309-51_1309-50insAC
ENST00000356589.6:c.1216-51_1216-50insAC	ENSP00000348997.2:n.1216-51_1216-50insAC
ENST00000371916.5:c.565-51_565-50insAC	ENSP00000360984.2:n.565-51_565-50insAC
ENST00000371929.7:c.1309-51_1309-50insAC	ENSP00000360997.3:n.1309-51_1309-50insAC
ENST00000474918.1:c.*113-51_*113-50insAC	ENSP00000435305.1:n.*113-51_*113-50insAC
ENST00000485925.5:n.974-2588_974-2587insAC
ENST00000495234.5:c.*593-51_*593-50insAC	ENSP00000435274.1:n.*593-51_*593-50insAC
NM_139025.4:c.1309-51_1309-50insAC , LRG_544t1:c.1309-51_1309-50insAC	NP_620594.1:n.1309-51_1309-50insAC
NM_139026.4:c.1216-51_1216-50insAC	NP_620595.1:n.1216-51_1216-50insAC
NM_139027.4:c.1309-51_1309-50insAC	NP_620596.2:n.1309-51_1309-50insAC
NR_024514.2:n.993-2588_993-2587insAC
XM_011518174.1:c.919-51_919-50insAC	XP_011516476.1:n.919-51_919-50insAC
XM_011518175.1:c.1309-51_1309-50insAC	XP_011516477.1:n.1309-51_1309-50insAC
XM_011518176.1:c.325-51_325-50insAC	XP_011516478.1:n.325-51_325-50insAC
XM_011518177.1:c.319-51_319-50insAC	XP_011516479.1:n.319-51_319-50insAC
XM_011518178.1:c.-27-51_-27-50insAC	XP_011516480.1:n.-27-51_-27-50insAC
XM_011518179.1:c.95-51_95-50insAC	XP_011516481.1:n.95-51_95-50insAC
XM_011518180.1:c.687-8085_687-8084insAC	XP_011516482.1:n.687-8085_687-8084insAC
XM_011518176.3:c.325-51_325-50insAC	XP_011516478.1:n.325-51_325-50insAC
XM_011518178.2:c.-27-51_-27-50insAC	XP_011516480.1:n.-27-51_-27-50insAC
XM_017014232.1:c.1297-51_1297-50insAC	XP_016869721.1:n.1297-51_1297-50insAC
XM_017014233.1:c.919-51_919-50insAC	XP_016869722.1:n.919-51_919-50insAC
XM_017014234.2:c.319-51_319-50insAC	XP_016869723.1:n.319-51_319-50insAC
XM_017014235.1:c.1309-51_1309-50insAC	XP_016869724.1:n.1309-51_1309-50insAC
XR_001746171.1:n.2534-51_2534-50insAC
NM_139026.5:c.1216-51_1216-50insAC	NP_620595.1:n.1216-51_1216-50insAC
NM_139027.5:c.1309-51_1309-50insAC	NP_620596.2:n.1309-51_1309-50insAC
NM_139025.5:c.1309-51_1309-50insAC	NP_620594.1:n.1309-51_1309-50insAC
NM_139026.6:c.1216-51_1216-50insAC	NP_620595.1:n.1216-51_1216-50insAC
NM_139027.6:c.1309-51_1309-50insAC MANE Select	NP_620596.2:n.1309-51_1309-50insAC
NR_024514.3:n.995-2588_995-2587insAC