Canonical Allele Identifier: CA1882681743
Gene: ADAMTS13 HGNC NCBI

Linked Data

dbSNP Id: rs1842640178

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454739_133454740del , CM000671.2:g.133454739_133454740del GRCh38
NC_000009.10:g.135309682_135309683del NCBI36
NG_011934.2:g.45401_45402del , LRG_544:g.45401_45402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3249+120_3249+121del MANE Select ENSP00000347927.2:n.3249+120_3249+121del
ENST00000355699.6:c.3249+120_3249+121del ENSP00000347927.2:n.3249+120_3249+121del
ENST00000356589.6:c.3156+120_3156+121del ENSP00000348997.2:n.3156+120_3156+121del
ENST00000371916.5:c.*718+120_*718+121del ENSP00000360984.2:n.*718+120_*718+121del
ENST00000371929.7:c.3249+120_3249+121del ENSP00000360997.3:n.3249+120_3249+121del
ENST00000485925.5:n.2065+120_2065+121del
NM_139025.4:c.3249+120_3249+121del , LRG_544t1:c.3249+120_3249+121del NP_620594.1:n.3249+120_3249+121del
NM_139026.4:c.3156+120_3156+121del NP_620595.1:n.3156+120_3156+121del
NM_139027.4:c.3249+120_3249+121del NP_620596.2:n.3249+120_3249+121del
NR_024514.2:n.2084+120_2084+121del
XM_011518174.1:c.2859+120_2859+121del XP_011516476.1:n.2859+120_2859+121del
XM_011518175.1:c.3249+120_3249+121del XP_011516477.1:n.3249+120_3249+121del
XM_011518176.1:c.2265+120_2265+121del XP_011516478.1:n.2265+120_2265+121del
XM_011518177.1:c.2259+120_2259+121del XP_011516479.1:n.2259+120_2259+121del
XM_011518178.1:c.1914+120_1914+121del XP_011516480.1:n.1914+120_1914+121del
XM_011518179.1:c.1914+120_1914+121del XP_011516481.1:n.1914+120_1914+121del
XM_011518180.1:c.1515+120_1515+121del XP_011516482.1:n.1515+120_1515+121del
XM_011518176.3:c.2265+120_2265+121del XP_011516478.1:n.2265+120_2265+121del
XM_011518178.2:c.1914+120_1914+121del XP_011516480.1:n.1914+120_1914+121del
XM_017014232.1:c.3237+120_3237+121del XP_016869721.1:n.3237+120_3237+121del
XM_017014233.1:c.2859+120_2859+121del XP_016869722.1:n.2859+120_2859+121del
XM_017014234.2:c.2259+120_2259+121del XP_016869723.1:n.2259+120_2259+121del
NM_139026.5:c.3156+120_3156+121del NP_620595.1:n.3156+120_3156+121del
NM_139027.5:c.3249+120_3249+121del NP_620596.2:n.3249+120_3249+121del
NM_139025.5:c.3249+120_3249+121del NP_620594.1:n.3249+120_3249+121del
NM_139026.6:c.3156+120_3156+121del NP_620595.1:n.3156+120_3156+121del
NM_139027.6:c.3249+120_3249+121del MANE Select NP_620596.2:n.3249+120_3249+121del
NR_024514.3:n.2086+120_2086+121del