Canonical Allele Identifier: CA2692368525

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436772-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436772G>T , CM000671.2:g.133436772G>T	GRCh38
NC_000009.10:g.135291713G>T	NCBI36
NG_011934.2:g.27434G>T , LRG_544:g.27434G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1309-57G>T MANE Select	ENSP00000347927.2:n.1309-57G>T
ENST00000355699.6:c.1309-57G>T	ENSP00000347927.2:n.1309-57G>T
ENST00000356589.6:c.1216-57G>T	ENSP00000348997.2:n.1216-57G>T
ENST00000371916.5:c.565-57G>T	ENSP00000360984.2:n.565-57G>T
ENST00000371929.7:c.1309-57G>T	ENSP00000360997.3:n.1309-57G>T
ENST00000474918.1:c.*113-57G>T	ENSP00000435305.1:n.*113-57G>T
ENST00000485925.5:n.974-2594G>T
ENST00000495234.5:c.*593-57G>T	ENSP00000435274.1:n.*593-57G>T
NM_139025.4:c.1309-57G>T , LRG_544t1:c.1309-57G>T	NP_620594.1:n.1309-57G>T
NM_139026.4:c.1216-57G>T	NP_620595.1:n.1216-57G>T
NM_139027.4:c.1309-57G>T	NP_620596.2:n.1309-57G>T
NR_024514.2:n.993-2594G>T
XM_011518174.1:c.919-57G>T	XP_011516476.1:n.919-57G>T
XM_011518175.1:c.1309-57G>T	XP_011516477.1:n.1309-57G>T
XM_011518176.1:c.325-57G>T	XP_011516478.1:n.325-57G>T
XM_011518177.1:c.319-57G>T	XP_011516479.1:n.319-57G>T
XM_011518178.1:c.-27-57G>T	XP_011516480.1:n.-27-57G>T
XM_011518179.1:c.95-57G>T	XP_011516481.1:n.95-57G>T
XM_011518180.1:c.687-8091G>T	XP_011516482.1:n.687-8091G>T
XM_011518176.3:c.325-57G>T	XP_011516478.1:n.325-57G>T
XM_011518178.2:c.-27-57G>T	XP_011516480.1:n.-27-57G>T
XM_017014232.1:c.1297-57G>T	XP_016869721.1:n.1297-57G>T
XM_017014233.1:c.919-57G>T	XP_016869722.1:n.919-57G>T
XM_017014234.2:c.319-57G>T	XP_016869723.1:n.319-57G>T
XM_017014235.1:c.1309-57G>T	XP_016869724.1:n.1309-57G>T
XR_001746171.1:n.2534-57G>T
NM_139026.5:c.1216-57G>T	NP_620595.1:n.1216-57G>T
NM_139027.5:c.1309-57G>T	NP_620596.2:n.1309-57G>T
NM_139025.5:c.1309-57G>T	NP_620594.1:n.1309-57G>T
NM_139026.6:c.1216-57G>T	NP_620595.1:n.1216-57G>T
NM_139027.6:c.1309-57G>T MANE Select	NP_620596.2:n.1309-57G>T
NR_024514.3:n.995-2594G>T