Canonical Allele Identifier: CA2692372035

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133437100-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133437100C>A , CM000671.2:g.133437100C>A	GRCh38
NC_000009.10:g.135292041C>A	NCBI36
NG_011934.2:g.27762C>A , LRG_544:g.27762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1435+145C>A MANE Select	ENSP00000347927.2:n.1435+145C>A
ENST00000355699.6:c.1435+145C>A	ENSP00000347927.2:n.1435+145C>A
ENST00000356589.6:c.1342+145C>A	ENSP00000348997.2:n.1342+145C>A
ENST00000371916.5:c.691+145C>A	ENSP00000360984.2:n.691+145C>A
ENST00000371929.7:c.1435+145C>A	ENSP00000360997.3:n.1435+145C>A
ENST00000474918.1:c.*239+145C>A	ENSP00000435305.1:n.*239+145C>A
ENST00000485925.5:n.974-2266C>A
ENST00000495234.5:c.*719+145C>A	ENSP00000435274.1:n.*719+145C>A
NM_139025.4:c.1435+145C>A , LRG_544t1:c.1435+145C>A	NP_620594.1:n.1435+145C>A
NM_139026.4:c.1342+145C>A	NP_620595.1:n.1342+145C>A
NM_139027.4:c.1435+145C>A	NP_620596.2:n.1435+145C>A
NR_024514.2:n.993-2266C>A
XM_011518174.1:c.1045+145C>A	XP_011516476.1:n.1045+145C>A
XM_011518175.1:c.1435+145C>A	XP_011516477.1:n.1435+145C>A
XM_011518176.1:c.451+145C>A	XP_011516478.1:n.451+145C>A
XM_011518177.1:c.445+145C>A	XP_011516479.1:n.445+145C>A
XM_011518178.1:c.100+145C>A	XP_011516480.1:n.100+145C>A
XM_011518179.1:c.221+145C>A	XP_011516481.1:n.221+145C>A
XM_011518180.1:c.687-7763C>A	XP_011516482.1:n.687-7763C>A
XM_011518176.3:c.451+145C>A	XP_011516478.1:n.451+145C>A
XM_011518178.2:c.100+145C>A	XP_011516480.1:n.100+145C>A
XM_017014232.1:c.1423+145C>A	XP_016869721.1:n.1423+145C>A
XM_017014233.1:c.1045+145C>A	XP_016869722.1:n.1045+145C>A
XM_017014234.2:c.445+145C>A	XP_016869723.1:n.445+145C>A
XM_017014235.1:c.1435+145C>A	XP_016869724.1:n.1435+145C>A
XR_001746171.1:n.2660+145C>A
NM_139026.5:c.1342+145C>A	NP_620595.1:n.1342+145C>A
NM_139027.5:c.1435+145C>A	NP_620596.2:n.1435+145C>A
NM_139025.5:c.1435+145C>A	NP_620594.1:n.1435+145C>A
NM_139026.6:c.1342+145C>A	NP_620595.1:n.1342+145C>A
NM_139027.6:c.1435+145C>A MANE Select	NP_620596.2:n.1435+145C>A
NR_024514.3:n.995-2266C>A