Canonical Allele Identifier: CA1882681766
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454776_133454780delinsGAGAC , CM000671.2:g.133454776_133454780delinsGAGAC GRCh38
NC_000009.10:g.135309719_135309723delinsGAGAC NCBI36
NG_011934.2:g.45438_45442delinsGAGAC , LRG_544:g.45438_45442delinsGAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3249+157_3249+161delinsGAGAC MANE Select ENSP00000347927.2:n.3249+157_3249+161delinsGAGAC
ENST00000355699.6:c.3249+157_3249+161delinsGAGAC ENSP00000347927.2:n.3249+157_3249+161delinsGAGAC
ENST00000356589.6:c.3156+157_3156+161delinsGAGAC ENSP00000348997.2:n.3156+157_3156+161delinsGAGAC
ENST00000371916.5:c.*718+157_*718+161delinsGAGAC ENSP00000360984.2:n.*718+157_*718+161delinsGAGAC
ENST00000371929.7:c.3249+157_3249+161delinsGAGAC ENSP00000360997.3:n.3249+157_3249+161delinsGAGAC
ENST00000485925.5:n.2065+157_2065+161delinsGAGAC
NM_139025.4:c.3249+157_3249+161delinsGAGAC , LRG_544t1:c.3249+157_3249+161delinsGAGAC NP_620594.1:n.3249+157_3249+161delinsGAGAC
NM_139026.4:c.3156+157_3156+161delinsGAGAC NP_620595.1:n.3156+157_3156+161delinsGAGAC
NM_139027.4:c.3249+157_3249+161delinsGAGAC NP_620596.2:n.3249+157_3249+161delinsGAGAC
NR_024514.2:n.2084+157_2084+161delinsGAGAC
XM_011518174.1:c.2859+157_2859+161delinsGAGAC XP_011516476.1:n.2859+157_2859+161delinsGAGAC
XM_011518175.1:c.3249+157_3249+161delinsGAGAC XP_011516477.1:n.3249+157_3249+161delinsGAGAC
XM_011518176.1:c.2265+157_2265+161delinsGAGAC XP_011516478.1:n.2265+157_2265+161delinsGAGAC
XM_011518177.1:c.2259+157_2259+161delinsGAGAC XP_011516479.1:n.2259+157_2259+161delinsGAGAC
XM_011518178.1:c.1914+157_1914+161delinsGAGAC XP_011516480.1:n.1914+157_1914+161delinsGAGAC
XM_011518179.1:c.1914+157_1914+161delinsGAGAC XP_011516481.1:n.1914+157_1914+161delinsGAGAC
XM_011518180.1:c.1515+157_1515+161delinsGAGAC XP_011516482.1:n.1515+157_1515+161delinsGAGAC
XM_011518176.3:c.2265+157_2265+161delinsGAGAC XP_011516478.1:n.2265+157_2265+161delinsGAGAC
XM_011518178.2:c.1914+157_1914+161delinsGAGAC XP_011516480.1:n.1914+157_1914+161delinsGAGAC
XM_017014232.1:c.3237+157_3237+161delinsGAGAC XP_016869721.1:n.3237+157_3237+161delinsGAGAC
XM_017014233.1:c.2859+157_2859+161delinsGAGAC XP_016869722.1:n.2859+157_2859+161delinsGAGAC
XM_017014234.2:c.2259+157_2259+161delinsGAGAC XP_016869723.1:n.2259+157_2259+161delinsGAGAC
NM_139026.5:c.3156+157_3156+161delinsGAGAC NP_620595.1:n.3156+157_3156+161delinsGAGAC
NM_139027.5:c.3249+157_3249+161delinsGAGAC NP_620596.2:n.3249+157_3249+161delinsGAGAC
NM_139025.5:c.3249+157_3249+161delinsGAGAC NP_620594.1:n.3249+157_3249+161delinsGAGAC
NM_139026.6:c.3156+157_3156+161delinsGAGAC NP_620595.1:n.3156+157_3156+161delinsGAGAC
NM_139027.6:c.3249+157_3249+161delinsGAGAC MANE Select NP_620596.2:n.3249+157_3249+161delinsGAGAC
NR_024514.3:n.2086+157_2086+161delinsGAGAC