Canonical Allele Identifier: CA1882681591
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133454431C= , CM000671.2:g.133454431C= GRCh38
NC_000009.10:g.135309374C= NCBI36
NG_011934.2:g.45093C= , LRG_544:g.45093C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3061C= MANE Select ENSP00000347927.2:p.Leu1021=
ENST00000355699.6:c.3061C= ENSP00000347927.2:p.Leu1021=
ENST00000356589.6:c.2968C= ENSP00000348997.2:p.Leu990=
ENST00000371916.5:c.*530C= ENSP00000360984.2:n.*530C=
ENST00000371929.7:c.3061C= ENSP00000360997.3:p.Leu1021=
ENST00000485925.5:n.1877C=
NM_139025.4:c.3061C= , LRG_544t1:c.3061C= NP_620594.1:p.Leu1021=
NM_139026.4:c.2968C= NP_620595.1:p.Leu990=
NM_139027.4:c.3061C= NP_620596.2:p.Leu1021=
NR_024514.2:n.1896C=
XM_011518174.1:c.2671C= XP_011516476.1:p.Leu891=
XM_011518175.1:c.3061C= XP_011516477.1:p.Leu1021=
XM_011518176.1:c.2077C= XP_011516478.1:p.Leu693=
XM_011518177.1:c.2071C= XP_011516479.1:p.Leu691=
XM_011518178.1:c.1726C= XP_011516480.1:p.Leu576=
XM_011518179.1:c.1726C= XP_011516481.1:p.Leu576=
XM_011518180.1:c.1327C= XP_011516482.1:p.Leu443=
XM_011518176.3:c.2077C= XP_011516478.1:p.Leu693=
XM_011518178.2:c.1726C= XP_011516480.1:p.Leu576=
XM_017014232.1:c.3049C= XP_016869721.1:p.Leu1017=
XM_017014233.1:c.2671C= XP_016869722.1:p.Leu891=
XM_017014234.2:c.2071C= XP_016869723.1:p.Leu691=
XR_001746171.1:n.3834C=
NM_139026.5:c.2968C= NP_620595.1:p.Leu990=
NM_139027.5:c.3061C= NP_620596.2:p.Leu1021=
NM_139025.5:c.3061C= NP_620594.1:p.Leu1021=
NM_139026.6:c.2968C= NP_620595.1:p.Leu990=
NM_139027.6:c.3061C= MANE Select NP_620596.2:p.Leu1021=
NR_024514.3:n.1898C=