Canonical Allele Identifier: CA1882681665
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454576T= , CM000671.2:g.133454576T= GRCh38
NC_000009.10:g.135309519T= NCBI36
NG_011934.2:g.45238T= , LRG_544:g.45238T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3206T= MANE Select ENSP00000347927.2:p.Ile1069=
ENST00000355699.6:c.3206T= ENSP00000347927.2:p.Ile1069=
ENST00000356589.6:c.3113T= ENSP00000348997.2:p.Ile1038=
ENST00000371916.5:c.*675T= ENSP00000360984.2:n.*675T=
ENST00000371929.7:c.3206T= ENSP00000360997.3:p.Ile1069=
ENST00000485925.5:n.2022T=
NM_139025.4:c.3206T= , LRG_544t1:c.3206T= NP_620594.1:p.Ile1069=
NM_139026.4:c.3113T= NP_620595.1:p.Ile1038=
NM_139027.4:c.3206T= NP_620596.2:p.Ile1069=
NR_024514.2:n.2041T=
XM_011518174.1:c.2816T= XP_011516476.1:p.Ile939=
XM_011518175.1:c.3206T= XP_011516477.1:p.Ile1069=
XM_011518176.1:c.2222T= XP_011516478.1:p.Ile741=
XM_011518177.1:c.2216T= XP_011516479.1:p.Ile739=
XM_011518178.1:c.1871T= XP_011516480.1:p.Ile624=
XM_011518179.1:c.1871T= XP_011516481.1:p.Ile624=
XM_011518180.1:c.1472T= XP_011516482.1:p.Ile491=
XM_011518176.3:c.2222T= XP_011516478.1:p.Ile741=
XM_011518178.2:c.1871T= XP_011516480.1:p.Ile624=
XM_017014232.1:c.3194T= XP_016869721.1:p.Ile1065=
XM_017014233.1:c.2816T= XP_016869722.1:p.Ile939=
XM_017014234.2:c.2216T= XP_016869723.1:p.Ile739=
NM_139026.5:c.3113T= NP_620595.1:p.Ile1038=
NM_139027.5:c.3206T= NP_620596.2:p.Ile1069=
NM_139025.5:c.3206T= NP_620594.1:p.Ile1069=
NM_139026.6:c.3113T= NP_620595.1:p.Ile1038=
NM_139027.6:c.3206T= MANE Select NP_620596.2:p.Ile1069=
NR_024514.3:n.2043T=