Canonical Allele Identifier: CA2573155959

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 1430522
• ClinVar RCV Id: RCV001952459
• dbSNP Id: rs2146082887

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8597068_8597075dup , CM000681.2:g.8597068_8597075dup	GRCh38
NC_000019.9:g.8661952_8661959dup , CM000681.1:g.8661952_8661959dup	GRCh37
NC_000019.8:g.8567952_8567959dup	NCBI36
NG_011840.2:g.18630_18637dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000597188.6:c.954_961dup MANE Select	ENSP00000471851.1:p.Ile321ArgfsTer5
ENST00000270328.8:c.954_961dup	ENSP00000270328.4:p.Ile321ArgfsTer5
ENST00000593913.5:c.*78+11_*78+18dup	ENSP00000469901.1:n.*78+11_*78+18dup
ENST00000596851.5:c.*89_*96dup	ENSP00000469559.1:n.*89_*96dup
ENST00000597188.5:c.954_961dup	ENSP00000471851.1:p.Ile321ArgfsTer5
ENST00000601163.1:n.149_156dup
NM_030957.3:c.954_961dup	NP_112219.3:p.Ile321ArgfsTer5
XM_006722917.2:c.-151_-144dup	XP_006722980.1:n.-151_-144dup
XM_011528331.1:c.954_961dup	XP_011526633.1:p.Ile321ArgfsTer5
XM_011528332.1:c.954_961dup	XP_011526634.1:p.Ile321ArgfsTer5
XM_011528333.1:c.954_961dup	XP_011526635.1:p.Ile321ArgfsTer5
XM_011528334.1:c.954_961dup	XP_011526636.1:p.Ile321ArgfsTer5
XR_430156.2:n.1230_1237dup
XR_936208.1:n.1230_1237dup
XR_936209.1:n.1230_1237dup
XM_006722917.3:c.-151_-144dup	XP_006722980.1:n.-151_-144dup
XM_017027338.2:c.954_961dup	XP_016882827.1:p.Ile321ArgfsTer5
XR_001753770.1:n.1790_1797dup
NM_030957.4:c.954_961dup MANE Select	NP_112219.3:p.Ile321ArgfsTer5