Canonical Allele Identifier: CA1882681620
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454494C= , CM000671.2:g.133454494C= GRCh38
NC_000009.10:g.135309437C= NCBI36
NG_011934.2:g.45156C= , LRG_544:g.45156C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3124C= MANE Select ENSP00000347927.2:p.Leu1042=
ENST00000355699.6:c.3124C= ENSP00000347927.2:p.Leu1042=
ENST00000356589.6:c.3031C= ENSP00000348997.2:p.Leu1011=
ENST00000371916.5:c.*593C= ENSP00000360984.2:n.*593C=
ENST00000371929.7:c.3124C= ENSP00000360997.3:p.Leu1042=
ENST00000485925.5:n.1940C=
NM_139025.4:c.3124C= , LRG_544t1:c.3124C= NP_620594.1:p.Leu1042=
NM_139026.4:c.3031C= NP_620595.1:p.Leu1011=
NM_139027.4:c.3124C= NP_620596.2:p.Leu1042=
NR_024514.2:n.1959C=
XM_011518174.1:c.2734C= XP_011516476.1:p.Leu912=
XM_011518175.1:c.3124C= XP_011516477.1:p.Leu1042=
XM_011518176.1:c.2140C= XP_011516478.1:p.Leu714=
XM_011518177.1:c.2134C= XP_011516479.1:p.Leu712=
XM_011518178.1:c.1789C= XP_011516480.1:p.Leu597=
XM_011518179.1:c.1789C= XP_011516481.1:p.Leu597=
XM_011518180.1:c.1390C= XP_011516482.1:p.Leu464=
XM_011518176.3:c.2140C= XP_011516478.1:p.Leu714=
XM_011518178.2:c.1789C= XP_011516480.1:p.Leu597=
XM_017014232.1:c.3112C= XP_016869721.1:p.Leu1038=
XM_017014233.1:c.2734C= XP_016869722.1:p.Leu912=
XM_017014234.2:c.2134C= XP_016869723.1:p.Leu712=
NM_139026.5:c.3031C= NP_620595.1:p.Leu1011=
NM_139027.5:c.3124C= NP_620596.2:p.Leu1042=
NM_139025.5:c.3124C= NP_620594.1:p.Leu1042=
NM_139026.6:c.3031C= NP_620595.1:p.Leu1011=
NM_139027.6:c.3124C= MANE Select NP_620596.2:p.Leu1042=
NR_024514.3:n.1961C=