Canonical Allele Identifier: CA1882673221

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437022_133437024delinsCAT , CM000671.2:g.133437022_133437024delinsCAT	GRCh38
NC_000009.10:g.135291963_135291965delinsCAT	NCBI36
NG_011934.2:g.27684_27686delinsCAT , LRG_544:g.27684_27686delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1435+67_1435+69delinsCAT MANE Select	ENSP00000347927.2:n.1435+67_1435+69delinsCAT
ENST00000355699.6:c.1435+67_1435+69delinsCAT	ENSP00000347927.2:n.1435+67_1435+69delinsCAT
ENST00000356589.6:c.1342+67_1342+69delinsCAT	ENSP00000348997.2:n.1342+67_1342+69delinsCAT
ENST00000371916.5:c.691+67_691+69delinsCAT	ENSP00000360984.2:n.691+67_691+69delinsCAT
ENST00000371929.7:c.1435+67_1435+69delinsCAT	ENSP00000360997.3:n.1435+67_1435+69delinsCAT
ENST00000474918.1:c.*239+67_*239+69delinsCAT	ENSP00000435305.1:n.*239+67_*239+69delinsCAT
ENST00000485925.5:n.974-2344_974-2342delinsCAT
ENST00000495234.5:c.*719+67_*719+69delinsCAT	ENSP00000435274.1:n.*719+67_*719+69delinsCAT
NM_139025.4:c.1435+67_1435+69delinsCAT , LRG_544t1:c.1435+67_1435+69delinsCAT	NP_620594.1:n.1435+67_1435+69delinsCAT
NM_139026.4:c.1342+67_1342+69delinsCAT	NP_620595.1:n.1342+67_1342+69delinsCAT
NM_139027.4:c.1435+67_1435+69delinsCAT	NP_620596.2:n.1435+67_1435+69delinsCAT
NR_024514.2:n.993-2344_993-2342delinsCAT
XM_011518174.1:c.1045+67_1045+69delinsCAT	XP_011516476.1:n.1045+67_1045+69delinsCAT
XM_011518175.1:c.1435+67_1435+69delinsCAT	XP_011516477.1:n.1435+67_1435+69delinsCAT
XM_011518176.1:c.451+67_451+69delinsCAT	XP_011516478.1:n.451+67_451+69delinsCAT
XM_011518177.1:c.445+67_445+69delinsCAT	XP_011516479.1:n.445+67_445+69delinsCAT
XM_011518178.1:c.100+67_100+69delinsCAT	XP_011516480.1:n.100+67_100+69delinsCAT
XM_011518179.1:c.221+67_221+69delinsCAT	XP_011516481.1:n.221+67_221+69delinsCAT
XM_011518180.1:c.687-7841_687-7839delinsCAT	XP_011516482.1:n.687-7841_687-7839delinsCAT
XM_011518176.3:c.451+67_451+69delinsCAT	XP_011516478.1:n.451+67_451+69delinsCAT
XM_011518178.2:c.100+67_100+69delinsCAT	XP_011516480.1:n.100+67_100+69delinsCAT
XM_017014232.1:c.1423+67_1423+69delinsCAT	XP_016869721.1:n.1423+67_1423+69delinsCAT
XM_017014233.1:c.1045+67_1045+69delinsCAT	XP_016869722.1:n.1045+67_1045+69delinsCAT
XM_017014234.2:c.445+67_445+69delinsCAT	XP_016869723.1:n.445+67_445+69delinsCAT
XM_017014235.1:c.1435+67_1435+69delinsCAT	XP_016869724.1:n.1435+67_1435+69delinsCAT
XR_001746171.1:n.2660+67_2660+69delinsCAT
NM_139026.5:c.1342+67_1342+69delinsCAT	NP_620595.1:n.1342+67_1342+69delinsCAT
NM_139027.5:c.1435+67_1435+69delinsCAT	NP_620596.2:n.1435+67_1435+69delinsCAT
NM_139025.5:c.1435+67_1435+69delinsCAT	NP_620594.1:n.1435+67_1435+69delinsCAT
NM_139026.6:c.1342+67_1342+69delinsCAT	NP_620595.1:n.1342+67_1342+69delinsCAT
NM_139027.6:c.1435+67_1435+69delinsCAT MANE Select	NP_620596.2:n.1435+67_1435+69delinsCAT
NR_024514.3:n.995-2344_995-2342delinsCAT