Canonical Allele Identifier: CA2692371951

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133437078-GCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437086_133437143del , CM000671.2:g.133437086_133437143del	GRCh38
NC_000009.10:g.135292027_135292084del	NCBI36
NG_011934.2:g.27748_27805del , LRG_544:g.27748_27805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1435+131_1435+188del MANE Select	ENSP00000347927.2:n.1435+131_1435+188del
ENST00000355699.6:c.1435+131_1435+188del	ENSP00000347927.2:n.1435+131_1435+188del
ENST00000356589.6:c.1342+131_1342+188del	ENSP00000348997.2:n.1342+131_1342+188del
ENST00000371916.5:c.691+131_691+188del	ENSP00000360984.2:n.691+131_691+188del
ENST00000371929.7:c.1435+131_1435+188del	ENSP00000360997.3:n.1435+131_1435+188del
ENST00000474918.1:c.*239+131_*239+188del	ENSP00000435305.1:n.*239+131_*239+188del
ENST00000485925.5:n.974-2280_974-2223del
ENST00000495234.5:c.*719+131_*719+188del	ENSP00000435274.1:n.*719+131_*719+188del
NM_139025.4:c.1435+131_1435+188del , LRG_544t1:c.1435+131_1435+188del	NP_620594.1:n.1435+131_1435+188del
NM_139026.4:c.1342+131_1342+188del	NP_620595.1:n.1342+131_1342+188del
NM_139027.4:c.1435+131_1435+188del	NP_620596.2:n.1435+131_1435+188del
NR_024514.2:n.993-2280_993-2223del
XM_011518174.1:c.1045+131_1045+188del	XP_011516476.1:n.1045+131_1045+188del
XM_011518175.1:c.1435+131_1435+188del	XP_011516477.1:n.1435+131_1435+188del
XM_011518176.1:c.451+131_451+188del	XP_011516478.1:n.451+131_451+188del
XM_011518177.1:c.445+131_445+188del	XP_011516479.1:n.445+131_445+188del
XM_011518178.1:c.100+131_100+188del	XP_011516480.1:n.100+131_100+188del
XM_011518179.1:c.221+131_221+188del	XP_011516481.1:n.221+131_221+188del
XM_011518180.1:c.687-7777_687-7720del	XP_011516482.1:n.687-7777_687-7720del
XM_011518176.3:c.451+131_451+188del	XP_011516478.1:n.451+131_451+188del
XM_011518178.2:c.100+131_100+188del	XP_011516480.1:n.100+131_100+188del
XM_017014232.1:c.1423+131_1423+188del	XP_016869721.1:n.1423+131_1423+188del
XM_017014233.1:c.1045+131_1045+188del	XP_016869722.1:n.1045+131_1045+188del
XM_017014234.2:c.445+131_445+188del	XP_016869723.1:n.445+131_445+188del
XM_017014235.1:c.1435+131_1435+188del	XP_016869724.1:n.1435+131_1435+188del
XR_001746171.1:n.2660+131_2660+188del
NM_139026.5:c.1342+131_1342+188del	NP_620595.1:n.1342+131_1342+188del
NM_139027.5:c.1435+131_1435+188del	NP_620596.2:n.1435+131_1435+188del
NM_139025.5:c.1435+131_1435+188del	NP_620594.1:n.1435+131_1435+188del
NM_139026.6:c.1342+131_1342+188del	NP_620595.1:n.1342+131_1342+188del
NM_139027.6:c.1435+131_1435+188del MANE Select	NP_620596.2:n.1435+131_1435+188del
NR_024514.3:n.995-2280_995-2223del