Canonical Allele Identifier: CA1882681742
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454733_133454735delinsGGA , CM000671.2:g.133454733_133454735delinsGGA GRCh38
NC_000009.10:g.135309676_135309678delinsGGA NCBI36
NG_011934.2:g.45395_45397delinsGGA , LRG_544:g.45395_45397delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3249+114_3249+116delinsGGA MANE Select ENSP00000347927.2:n.3249+114_3249+116delinsGGA
ENST00000355699.6:c.3249+114_3249+116delinsGGA ENSP00000347927.2:n.3249+114_3249+116delinsGGA
ENST00000356589.6:c.3156+114_3156+116delinsGGA ENSP00000348997.2:n.3156+114_3156+116delinsGGA
ENST00000371916.5:c.*718+114_*718+116delinsGGA ENSP00000360984.2:n.*718+114_*718+116delinsGGA
ENST00000371929.7:c.3249+114_3249+116delinsGGA ENSP00000360997.3:n.3249+114_3249+116delinsGGA
ENST00000485925.5:n.2065+114_2065+116delinsGGA
NM_139025.4:c.3249+114_3249+116delinsGGA , LRG_544t1:c.3249+114_3249+116delinsGGA NP_620594.1:n.3249+114_3249+116delinsGGA
NM_139026.4:c.3156+114_3156+116delinsGGA NP_620595.1:n.3156+114_3156+116delinsGGA
NM_139027.4:c.3249+114_3249+116delinsGGA NP_620596.2:n.3249+114_3249+116delinsGGA
NR_024514.2:n.2084+114_2084+116delinsGGA
XM_011518174.1:c.2859+114_2859+116delinsGGA XP_011516476.1:n.2859+114_2859+116delinsGGA
XM_011518175.1:c.3249+114_3249+116delinsGGA XP_011516477.1:n.3249+114_3249+116delinsGGA
XM_011518176.1:c.2265+114_2265+116delinsGGA XP_011516478.1:n.2265+114_2265+116delinsGGA
XM_011518177.1:c.2259+114_2259+116delinsGGA XP_011516479.1:n.2259+114_2259+116delinsGGA
XM_011518178.1:c.1914+114_1914+116delinsGGA XP_011516480.1:n.1914+114_1914+116delinsGGA
XM_011518179.1:c.1914+114_1914+116delinsGGA XP_011516481.1:n.1914+114_1914+116delinsGGA
XM_011518180.1:c.1515+114_1515+116delinsGGA XP_011516482.1:n.1515+114_1515+116delinsGGA
XM_011518176.3:c.2265+114_2265+116delinsGGA XP_011516478.1:n.2265+114_2265+116delinsGGA
XM_011518178.2:c.1914+114_1914+116delinsGGA XP_011516480.1:n.1914+114_1914+116delinsGGA
XM_017014232.1:c.3237+114_3237+116delinsGGA XP_016869721.1:n.3237+114_3237+116delinsGGA
XM_017014233.1:c.2859+114_2859+116delinsGGA XP_016869722.1:n.2859+114_2859+116delinsGGA
XM_017014234.2:c.2259+114_2259+116delinsGGA XP_016869723.1:n.2259+114_2259+116delinsGGA
NM_139026.5:c.3156+114_3156+116delinsGGA NP_620595.1:n.3156+114_3156+116delinsGGA
NM_139027.5:c.3249+114_3249+116delinsGGA NP_620596.2:n.3249+114_3249+116delinsGGA
NM_139025.5:c.3249+114_3249+116delinsGGA NP_620594.1:n.3249+114_3249+116delinsGGA
NM_139026.6:c.3156+114_3156+116delinsGGA NP_620595.1:n.3156+114_3156+116delinsGGA
NM_139027.6:c.3249+114_3249+116delinsGGA MANE Select NP_620596.2:n.3249+114_3249+116delinsGGA
NR_024514.3:n.2086+114_2086+116delinsGGA