Canonical Allele Identifier: CA2692361261

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454415-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454415G>A , CM000671.2:g.133454415G>A	GRCh38
NC_000009.10:g.135309358G>A	NCBI36
NG_011934.2:g.45077G>A , LRG_544:g.45077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3045G>A MANE Select	ENSP00000347927.2:p.Arg1015=
ENST00000355699.6:c.3045G>A	ENSP00000347927.2:p.Arg1015=
ENST00000356589.6:c.2952G>A	ENSP00000348997.2:p.Arg984=
ENST00000371916.5:c.*514G>A	ENSP00000360984.2:n.*514G>A
ENST00000371929.7:c.3045G>A	ENSP00000360997.3:p.Arg1015=
ENST00000485925.5:n.1861G>A
NM_139025.4:c.3045G>A , LRG_544t1:c.3045G>A	NP_620594.1:p.Arg1015=
NM_139026.4:c.2952G>A	NP_620595.1:p.Arg984=
NM_139027.4:c.3045G>A	NP_620596.2:p.Arg1015=
NR_024514.2:n.1880G>A
XM_011518174.1:c.2655G>A	XP_011516476.1:p.Arg885=
XM_011518175.1:c.3045G>A	XP_011516477.1:p.Arg1015=
XM_011518176.1:c.2061G>A	XP_011516478.1:p.Arg687=
XM_011518177.1:c.2055G>A	XP_011516479.1:p.Arg685=
XM_011518178.1:c.1710G>A	XP_011516480.1:p.Arg570=
XM_011518179.1:c.1710G>A	XP_011516481.1:p.Arg570=
XM_011518180.1:c.1311G>A	XP_011516482.1:p.Arg437=
XM_011518176.3:c.2061G>A	XP_011516478.1:p.Arg687=
XM_011518178.2:c.1710G>A	XP_011516480.1:p.Arg570=
XM_017014232.1:c.3033G>A	XP_016869721.1:p.Arg1011=
XM_017014233.1:c.2655G>A	XP_016869722.1:p.Arg885=
XM_017014234.2:c.2055G>A	XP_016869723.1:p.Arg685=
XR_001746171.1:n.3818G>A
NM_139026.5:c.2952G>A	NP_620595.1:p.Arg984=
NM_139027.5:c.3045G>A	NP_620596.2:p.Arg1015=
NM_139025.5:c.3045G>A	NP_620594.1:p.Arg1015=
NM_139026.6:c.2952G>A	NP_620595.1:p.Arg984=
NM_139027.6:c.3045G>A MANE Select	NP_620596.2:p.Arg1015=
NR_024514.3:n.1882G>A