Canonical Allele Identifier: CA645549620

Gene: ADAMTS13

Linked Data

• COSMIC: COSM3905308

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456127G>A , CM000671.2:g.133456127G>A	GRCh38
NC_000009.10:g.135311070G>A	NCBI36
NG_011934.2:g.46789G>A , LRG_544:g.46789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3459G>A MANE Select	ENSP00000347927.2:p.Gly1153=
ENST00000355699.6:c.3459G>A	ENSP00000347927.2:p.Gly1153=
ENST00000356589.6:c.3366G>A	ENSP00000348997.2:p.Gly1122=
ENST00000371910.1:c.15G>A	ENSP00000360978.1:p.Gly5=
ENST00000371916.5:c.*928G>A	ENSP00000360984.2:n.*928G>A
ENST00000371929.7:c.3627G>A	ENSP00000360997.3:p.Gly1209=
ENST00000485925.5:n.2275G>A
NM_139025.4:c.3627G>A , LRG_544t1:c.3627G>A	NP_620594.1:p.Gly1209=
NM_139026.4:c.3366G>A	NP_620595.1:p.Gly1122=
NM_139027.4:c.3459G>A	NP_620596.2:p.Gly1153=
NR_024514.2:n.2294G>A
XM_011518174.1:c.3237G>A	XP_011516476.1:p.Gly1079=
XM_011518175.1:c.*34G>A	XP_011516477.1:n.*34G>A
XM_011518176.1:c.2643G>A	XP_011516478.1:p.Gly881=
XM_011518177.1:c.2637G>A	XP_011516479.1:p.Gly879=
XM_011518178.1:c.2292G>A	XP_011516480.1:p.Gly764=
XM_011518179.1:c.2292G>A	XP_011516481.1:p.Gly764=
XM_011518180.1:c.1893G>A	XP_011516482.1:p.Gly631=
XM_011518176.3:c.2643G>A	XP_011516478.1:p.Gly881=
XM_011518178.2:c.2292G>A	XP_011516480.1:p.Gly764=
XM_017014232.1:c.3615G>A	XP_016869721.1:p.Gly1205=
XM_017014233.1:c.3237G>A	XP_016869722.1:p.Gly1079=
XM_017014234.2:c.2637G>A	XP_016869723.1:p.Gly879=
NM_139026.5:c.3366G>A	NP_620595.1:p.Gly1122=
NM_139027.5:c.3459G>A	NP_620596.2:p.Gly1153=
NM_139025.5:c.3627G>A	NP_620594.1:p.Gly1209=
NM_139026.6:c.3366G>A	NP_620595.1:p.Gly1122=
NM_139027.6:c.3459G>A MANE Select	NP_620596.2:p.Gly1153=
NR_024514.3:n.2296G>A