Canonical Allele Identifier: CA2692373346

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133450050-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133450050C>A , CM000671.2:g.133450050C>A	GRCh38
NC_000009.10:g.135304992C>A	NCBI36
NG_011934.2:g.40712C>A , LRG_544:g.40712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3044+85C>A MANE Select	ENSP00000347927.2:n.3044+85C>A
ENST00000355699.6:c.3044+85C>A	ENSP00000347927.2:n.3044+85C>A
ENST00000356589.6:c.2951+85C>A	ENSP00000348997.2:n.2951+85C>A
ENST00000371916.5:c.*513+85C>A	ENSP00000360984.2:n.*513+85C>A
ENST00000371929.7:c.3044+85C>A	ENSP00000360997.3:n.3044+85C>A
ENST00000485925.5:n.1860+85C>A
NM_139025.4:c.3044+85C>A , LRG_544t1:c.3044+85C>A	NP_620594.1:n.3044+85C>A
NM_139026.4:c.2951+85C>A	NP_620595.1:n.2951+85C>A
NM_139027.4:c.3044+85C>A	NP_620596.2:n.3044+85C>A
NR_024514.2:n.1879+85C>A
XM_011518174.1:c.2654+85C>A	XP_011516476.1:n.2654+85C>A
XM_011518175.1:c.3044+85C>A	XP_011516477.1:n.3044+85C>A
XM_011518176.1:c.2060+85C>A	XP_011516478.1:n.2060+85C>A
XM_011518177.1:c.2054+85C>A	XP_011516479.1:n.2054+85C>A
XM_011518178.1:c.1709+85C>A	XP_011516480.1:n.1709+85C>A
XM_011518179.1:c.1709+85C>A	XP_011516481.1:n.1709+85C>A
XM_011518180.1:c.1310+85C>A	XP_011516482.1:n.1310+85C>A
XM_011518176.3:c.2060+85C>A	XP_011516478.1:n.2060+85C>A
XM_011518178.2:c.1709+85C>A	XP_011516480.1:n.1709+85C>A
XM_017014232.1:c.3032+85C>A	XP_016869721.1:n.3032+85C>A
XM_017014233.1:c.2654+85C>A	XP_016869722.1:n.2654+85C>A
XM_017014234.2:c.2054+85C>A	XP_016869723.1:n.2054+85C>A
XR_001746171.1:n.3817+85C>A
NM_139026.5:c.2951+85C>A	NP_620595.1:n.2951+85C>A
NM_139027.5:c.3044+85C>A	NP_620596.2:n.3044+85C>A
NM_139025.5:c.3044+85C>A	NP_620594.1:n.3044+85C>A
NM_139026.6:c.2951+85C>A	NP_620595.1:n.2951+85C>A
NM_139027.6:c.3044+85C>A MANE Select	NP_620596.2:n.3044+85C>A
NR_024514.3:n.1881+85C>A