Canonical Allele Identifier: CA200947285
Gene: ADAMTS13 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133458632A>G , CM000671.2:g.133458632A>G GRCh38
NC_000009.10:g.135313575A>G NCBI36
NG_011934.2:g.49294A>G , LRG_544:g.49294A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.3910-342A>G MANE Select ENSP00000347927.2:n.3910-342A>G
ENST00000355699.6:c.3910-342A>G ENSP00000347927.2:n.3910-342A>G
ENST00000356589.6:c.3817-342A>G ENSP00000348997.2:n.3817-342A>G
ENST00000371910.1:c.466-342A>G ENSP00000360978.1:n.466-342A>G
ENST00000371916.5:c.*1379-342A>G ENSP00000360984.2:n.*1379-342A>G
ENST00000371929.7:c.4078-342A>G ENSP00000360997.3:n.4078-342A>G
ENST00000485925.5:n.2541-342A>G
NM_139025.4:c.4078-342A>G , LRG_544t1:c.4078-342A>G NP_620594.1:n.4078-342A>G
NM_139026.4:c.3817-342A>G NP_620595.1:n.3817-342A>G
NM_139027.4:c.3910-342A>G NP_620596.2:n.3910-342A>G
NR_024514.2:n.2560-342A>G
XM_011518174.1:c.3688-342A>G XP_011516476.1:n.3688-342A>G
XM_011518176.1:c.3094-342A>G XP_011516478.1:n.3094-342A>G
XM_011518177.1:c.3088-342A>G XP_011516479.1:n.3088-342A>G
XM_011518178.1:c.2743-342A>G XP_011516480.1:n.2743-342A>G
XM_011518179.1:c.2743-342A>G XP_011516481.1:n.2743-342A>G
XM_011518180.1:c.2344-342A>G XP_011516482.1:n.2344-342A>G
XM_011518176.3:c.3094-342A>G XP_011516478.1:n.3094-342A>G
XM_011518178.2:c.2743-342A>G XP_011516480.1:n.2743-342A>G
XM_017014232.1:c.4066-342A>G XP_016869721.1:n.4066-342A>G
XM_017014233.1:c.3688-342A>G XP_016869722.1:n.3688-342A>G
XM_017014234.2:c.3088-342A>G XP_016869723.1:n.3088-342A>G
NM_139026.5:c.3817-342A>G NP_620595.1:n.3817-342A>G
NM_139027.5:c.3910-342A>G NP_620596.2:n.3910-342A>G
NM_139025.5:c.4078-342A>G NP_620594.1:n.4078-342A>G
NM_139026.6:c.3817-342A>G NP_620595.1:n.3817-342A>G
NM_139027.6:c.3910-342A>G MANE Select NP_620596.2:n.3910-342A>G
NR_024514.3:n.2562-342A>G