Canonical Allele Identifier: CA200944693
Gene: ADAMTS13 HGNC NCBI

Linked Data

dbSNP Id: rs782135363

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456056_133456058del , CM000671.2:g.133456056_133456058del GRCh38
NC_000009.10:g.135310999_135311001del NCBI36
NG_011934.2:g.46718_46720del , LRG_544:g.46718_46720del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3401-13_3401-11del MANE Select ENSP00000347927.2:n.3401-13_3401-11del
ENST00000355699.6:c.3401-13_3401-11del ENSP00000347927.2:n.3401-13_3401-11del
ENST00000356589.6:c.3308-13_3308-11del ENSP00000348997.2:n.3308-13_3308-11del
ENST00000371910.1:c.-44-13_-44-11del ENSP00000360978.1:n.-44-13_-44-11del
ENST00000371916.5:c.*870-13_*870-11del ENSP00000360984.2:n.*870-13_*870-11del
ENST00000371929.7:c.3569-13_3569-11del ENSP00000360997.3:n.3569-13_3569-11del
ENST00000485925.5:n.2217-13_2217-11del
NM_139025.4:c.3569-13_3569-11del , LRG_544t1:c.3569-13_3569-11del NP_620594.1:n.3569-13_3569-11del
NM_139026.4:c.3308-13_3308-11del NP_620595.1:n.3308-13_3308-11del
NM_139027.4:c.3401-13_3401-11del NP_620596.2:n.3401-13_3401-11del
NR_024514.2:n.2236-13_2236-11del
XM_011518174.1:c.3179-13_3179-11del XP_011516476.1:n.3179-13_3179-11del
XM_011518175.1:c.3570-13_3570-11del XP_011516477.1:n.3570-13_3570-11del
XM_011518176.1:c.2585-13_2585-11del XP_011516478.1:n.2585-13_2585-11del
XM_011518177.1:c.2579-13_2579-11del XP_011516479.1:n.2579-13_2579-11del
XM_011518178.1:c.2234-13_2234-11del XP_011516480.1:n.2234-13_2234-11del
XM_011518179.1:c.2234-13_2234-11del XP_011516481.1:n.2234-13_2234-11del
XM_011518180.1:c.1835-13_1835-11del XP_011516482.1:n.1835-13_1835-11del
XM_011518176.3:c.2585-13_2585-11del XP_011516478.1:n.2585-13_2585-11del
XM_011518178.2:c.2234-13_2234-11del XP_011516480.1:n.2234-13_2234-11del
XM_017014232.1:c.3557-13_3557-11del XP_016869721.1:n.3557-13_3557-11del
XM_017014233.1:c.3179-13_3179-11del XP_016869722.1:n.3179-13_3179-11del
XM_017014234.2:c.2579-13_2579-11del XP_016869723.1:n.2579-13_2579-11del
NM_139026.5:c.3308-13_3308-11del NP_620595.1:n.3308-13_3308-11del
NM_139027.5:c.3401-13_3401-11del NP_620596.2:n.3401-13_3401-11del
NM_139025.5:c.3569-13_3569-11del NP_620594.1:n.3569-13_3569-11del
NM_139026.6:c.3308-13_3308-11del NP_620595.1:n.3308-13_3308-11del
NM_139027.6:c.3401-13_3401-11del MANE Select NP_620596.2:n.3401-13_3401-11del
NR_024514.3:n.2238-13_2238-11del