Canonical Allele Identifier: CA1882682436
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456095C= , CM000671.2:g.133456095C= GRCh38
NC_000009.10:g.135311038C= NCBI36
NG_011934.2:g.46757C= , LRG_544:g.46757C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3427C= MANE Select ENSP00000347927.2:p.Pro1143=
ENST00000355699.6:c.3427C= ENSP00000347927.2:p.Pro1143=
ENST00000356589.6:c.3334C= ENSP00000348997.2:p.Pro1112=
ENST00000371910.1:c.-18C= ENSP00000360978.1:n.-18C=
ENST00000371916.5:c.*896C= ENSP00000360984.2:n.*896C=
ENST00000371929.7:c.3595C= ENSP00000360997.3:p.Pro1199=
ENST00000485925.5:n.2243C=
NM_139025.4:c.3595C= , LRG_544t1:c.3595C= NP_620594.1:p.Pro1199=
NM_139026.4:c.3334C= NP_620595.1:p.Pro1112=
NM_139027.4:c.3427C= NP_620596.2:p.Pro1143=
NR_024514.2:n.2262C=
XM_011518174.1:c.3205C= XP_011516476.1:p.Pro1069=
XM_011518175.1:c.*2C= XP_011516477.1:n.*2C=
XM_011518176.1:c.2611C= XP_011516478.1:p.Pro871=
XM_011518177.1:c.2605C= XP_011516479.1:p.Pro869=
XM_011518178.1:c.2260C= XP_011516480.1:p.Pro754=
XM_011518179.1:c.2260C= XP_011516481.1:p.Pro754=
XM_011518180.1:c.1861C= XP_011516482.1:p.Pro621=
XM_011518176.3:c.2611C= XP_011516478.1:p.Pro871=
XM_011518178.2:c.2260C= XP_011516480.1:p.Pro754=
XM_017014232.1:c.3583C= XP_016869721.1:p.Pro1195=
XM_017014233.1:c.3205C= XP_016869722.1:p.Pro1069=
XM_017014234.2:c.2605C= XP_016869723.1:p.Pro869=
NM_139026.5:c.3334C= NP_620595.1:p.Pro1112=
NM_139027.5:c.3427C= NP_620596.2:p.Pro1143=
NM_139025.5:c.3595C= NP_620594.1:p.Pro1199=
NM_139026.6:c.3334C= NP_620595.1:p.Pro1112=
NM_139027.6:c.3427C= MANE Select NP_620596.2:p.Pro1143=
NR_024514.3:n.2264C=