Canonical Allele Identifier: CA1882681737
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454726_133454730delinsAAAGG , CM000671.2:g.133454726_133454730delinsAAAGG GRCh38
NC_000009.10:g.135309669_135309673delinsAAAGG NCBI36
NG_011934.2:g.45388_45392delinsAAAGG , LRG_544:g.45388_45392delinsAAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3249+107_3249+111delinsAAAGG MANE Select ENSP00000347927.2:n.3249+107_3249+111delinsAAAGG
ENST00000355699.6:c.3249+107_3249+111delinsAAAGG ENSP00000347927.2:n.3249+107_3249+111delinsAAAGG
ENST00000356589.6:c.3156+107_3156+111delinsAAAGG ENSP00000348997.2:n.3156+107_3156+111delinsAAAGG
ENST00000371916.5:c.*718+107_*718+111delinsAAAGG ENSP00000360984.2:n.*718+107_*718+111delinsAAAGG
ENST00000371929.7:c.3249+107_3249+111delinsAAAGG ENSP00000360997.3:n.3249+107_3249+111delinsAAAGG
ENST00000485925.5:n.2065+107_2065+111delinsAAAGG
NM_139025.4:c.3249+107_3249+111delinsAAAGG , LRG_544t1:c.3249+107_3249+111delinsAAAGG NP_620594.1:n.3249+107_3249+111delinsAAAGG
NM_139026.4:c.3156+107_3156+111delinsAAAGG NP_620595.1:n.3156+107_3156+111delinsAAAGG
NM_139027.4:c.3249+107_3249+111delinsAAAGG NP_620596.2:n.3249+107_3249+111delinsAAAGG
NR_024514.2:n.2084+107_2084+111delinsAAAGG
XM_011518174.1:c.2859+107_2859+111delinsAAAGG XP_011516476.1:n.2859+107_2859+111delinsAAAGG
XM_011518175.1:c.3249+107_3249+111delinsAAAGG XP_011516477.1:n.3249+107_3249+111delinsAAAGG
XM_011518176.1:c.2265+107_2265+111delinsAAAGG XP_011516478.1:n.2265+107_2265+111delinsAAAGG
XM_011518177.1:c.2259+107_2259+111delinsAAAGG XP_011516479.1:n.2259+107_2259+111delinsAAAGG
XM_011518178.1:c.1914+107_1914+111delinsAAAGG XP_011516480.1:n.1914+107_1914+111delinsAAAGG
XM_011518179.1:c.1914+107_1914+111delinsAAAGG XP_011516481.1:n.1914+107_1914+111delinsAAAGG
XM_011518180.1:c.1515+107_1515+111delinsAAAGG XP_011516482.1:n.1515+107_1515+111delinsAAAGG
XM_011518176.3:c.2265+107_2265+111delinsAAAGG XP_011516478.1:n.2265+107_2265+111delinsAAAGG
XM_011518178.2:c.1914+107_1914+111delinsAAAGG XP_011516480.1:n.1914+107_1914+111delinsAAAGG
XM_017014232.1:c.3237+107_3237+111delinsAAAGG XP_016869721.1:n.3237+107_3237+111delinsAAAGG
XM_017014233.1:c.2859+107_2859+111delinsAAAGG XP_016869722.1:n.2859+107_2859+111delinsAAAGG
XM_017014234.2:c.2259+107_2259+111delinsAAAGG XP_016869723.1:n.2259+107_2259+111delinsAAAGG
NM_139026.5:c.3156+107_3156+111delinsAAAGG NP_620595.1:n.3156+107_3156+111delinsAAAGG
NM_139027.5:c.3249+107_3249+111delinsAAAGG NP_620596.2:n.3249+107_3249+111delinsAAAGG
NM_139025.5:c.3249+107_3249+111delinsAAAGG NP_620594.1:n.3249+107_3249+111delinsAAAGG
NM_139026.6:c.3156+107_3156+111delinsAAAGG NP_620595.1:n.3156+107_3156+111delinsAAAGG
NM_139027.6:c.3249+107_3249+111delinsAAAGG MANE Select NP_620596.2:n.3249+107_3249+111delinsAAAGG
NR_024514.3:n.2086+107_2086+111delinsAAAGG