Canonical Allele Identifier: CA1882673207
Gene: ADAMTS13 HGNC NCBI

Linked Data

dbSNP Id: rs1841287452

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436992_133437006dup , CM000671.2:g.133436992_133437006dup GRCh38
NC_000009.10:g.135291933_135291947dup NCBI36
NG_011934.2:g.27654_27668dup , LRG_544:g.27654_27668dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.1435+37_1435+51dup MANE Select ENSP00000347927.2:n.1435+37_1435+51dup
ENST00000355699.6:c.1435+37_1435+51dup ENSP00000347927.2:n.1435+37_1435+51dup
ENST00000356589.6:c.1342+37_1342+51dup ENSP00000348997.2:n.1342+37_1342+51dup
ENST00000371916.5:c.691+37_691+51dup ENSP00000360984.2:n.691+37_691+51dup
ENST00000371929.7:c.1435+37_1435+51dup ENSP00000360997.3:n.1435+37_1435+51dup
ENST00000474918.1:c.*239+37_*239+51dup ENSP00000435305.1:n.*239+37_*239+51dup
ENST00000485925.5:n.974-2374_974-2360dup
ENST00000495234.5:c.*719+37_*719+51dup ENSP00000435274.1:n.*719+37_*719+51dup
NM_139025.4:c.1435+37_1435+51dup , LRG_544t1:c.1435+37_1435+51dup NP_620594.1:n.1435+37_1435+51dup
NM_139026.4:c.1342+37_1342+51dup NP_620595.1:n.1342+37_1342+51dup
NM_139027.4:c.1435+37_1435+51dup NP_620596.2:n.1435+37_1435+51dup
NR_024514.2:n.993-2374_993-2360dup
XM_011518174.1:c.1045+37_1045+51dup XP_011516476.1:n.1045+37_1045+51dup
XM_011518175.1:c.1435+37_1435+51dup XP_011516477.1:n.1435+37_1435+51dup
XM_011518176.1:c.451+37_451+51dup XP_011516478.1:n.451+37_451+51dup
XM_011518177.1:c.445+37_445+51dup XP_011516479.1:n.445+37_445+51dup
XM_011518178.1:c.100+37_100+51dup XP_011516480.1:n.100+37_100+51dup
XM_011518179.1:c.221+37_221+51dup XP_011516481.1:n.221+37_221+51dup
XM_011518180.1:c.687-7871_687-7857dup XP_011516482.1:n.687-7871_687-7857dup
XM_011518176.3:c.451+37_451+51dup XP_011516478.1:n.451+37_451+51dup
XM_011518178.2:c.100+37_100+51dup XP_011516480.1:n.100+37_100+51dup
XM_017014232.1:c.1423+37_1423+51dup XP_016869721.1:n.1423+37_1423+51dup
XM_017014233.1:c.1045+37_1045+51dup XP_016869722.1:n.1045+37_1045+51dup
XM_017014234.2:c.445+37_445+51dup XP_016869723.1:n.445+37_445+51dup
XM_017014235.1:c.1435+37_1435+51dup XP_016869724.1:n.1435+37_1435+51dup
XR_001746171.1:n.2660+37_2660+51dup
NM_139026.5:c.1342+37_1342+51dup NP_620595.1:n.1342+37_1342+51dup
NM_139027.5:c.1435+37_1435+51dup NP_620596.2:n.1435+37_1435+51dup
NM_139025.5:c.1435+37_1435+51dup NP_620594.1:n.1435+37_1435+51dup
NM_139026.6:c.1342+37_1342+51dup NP_620595.1:n.1342+37_1342+51dup
NM_139027.6:c.1435+37_1435+51dup MANE Select NP_620596.2:n.1435+37_1435+51dup
NR_024514.3:n.995-2374_995-2360dup