Canonical Allele Identifier: CA1882681611
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454477_133454480delinsCGGT , CM000671.2:g.133454477_133454480delinsCGGT GRCh38
NC_000009.10:g.135309420_135309423delinsCGGT NCBI36
NG_011934.2:g.45139_45142delinsCGGT , LRG_544:g.45139_45142delinsCGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3107_3110delinsCGGT MANE Select ENSP00000347927.2:p.Ser1036=
ENST00000355699.6:c.3107_3110delinsCGGT ENSP00000347927.2:p.Ser1036=
ENST00000356589.6:c.3014_3017delinsCGGT ENSP00000348997.2:p.Ser1005=
ENST00000371916.5:c.*576_*579delinsCGGT ENSP00000360984.2:n.*576_*579delinsCGGT
ENST00000371929.7:c.3107_3110delinsCGGT ENSP00000360997.3:p.Ser1036=
ENST00000485925.5:n.1923_1926delinsCGGT
NM_139025.4:c.3107_3110delinsCGGT , LRG_544t1:c.3107_3110delinsCGGT NP_620594.1:p.Ser1036=
NM_139026.4:c.3014_3017delinsCGGT NP_620595.1:p.Ser1005=
NM_139027.4:c.3107_3110delinsCGGT NP_620596.2:p.Ser1036=
NR_024514.2:n.1942_1945delinsCGGT
XM_011518174.1:c.2717_2720delinsCGGT XP_011516476.1:p.Ser906=
XM_011518175.1:c.3107_3110delinsCGGT XP_011516477.1:p.Ser1036=
XM_011518176.1:c.2123_2126delinsCGGT XP_011516478.1:p.Ser708=
XM_011518177.1:c.2117_2120delinsCGGT XP_011516479.1:p.Ser706=
XM_011518178.1:c.1772_1775delinsCGGT XP_011516480.1:p.Ser591=
XM_011518179.1:c.1772_1775delinsCGGT XP_011516481.1:p.Ser591=
XM_011518180.1:c.1373_1376delinsCGGT XP_011516482.1:p.Ser458=
XM_011518176.3:c.2123_2126delinsCGGT XP_011516478.1:p.Ser708=
XM_011518178.2:c.1772_1775delinsCGGT XP_011516480.1:p.Ser591=
XM_017014232.1:c.3095_3098delinsCGGT XP_016869721.1:p.Ser1032=
XM_017014233.1:c.2717_2720delinsCGGT XP_016869722.1:p.Ser906=
XM_017014234.2:c.2117_2120delinsCGGT XP_016869723.1:p.Ser706=
NM_139026.5:c.3014_3017delinsCGGT NP_620595.1:p.Ser1005=
NM_139027.5:c.3107_3110delinsCGGT NP_620596.2:p.Ser1036=
NM_139025.5:c.3107_3110delinsCGGT NP_620594.1:p.Ser1036=
NM_139026.6:c.3014_3017delinsCGGT NP_620595.1:p.Ser1005=
NM_139027.6:c.3107_3110delinsCGGT MANE Select NP_620596.2:p.Ser1036=
NR_024514.3:n.1944_1947delinsCGGT