Canonical Allele Identifier: CA145356
Gene: ADAM10 HGNC NCBI

Linked Data

ClinVar Variation Id: 88842
ClinVar RCV Id: RCV000074430
dbSNP Id: rs483352915

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58627797del , CM000677.2:g.58627797del GRCh38
NC_000015.9:g.58919996del , CM000677.1:g.58919996del GRCh37
NC_000015.8:g.56707288del NCBI36
NG_033876.1:g.127183del
NG_033876.2:g.126912del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260408.8:c.1264del MANE Select ENSP00000260408.3:p.Thr422HisfsTer19
ENST00000260408.7:c.1264del ENSP00000260408.3:p.Thr422HisfsTer19
ENST00000396136.6:c.1090del
ENST00000402627.5:c.154+5519del ENSP00000386056.1:n.154+5519del
ENST00000475898.1:n.289del
ENST00000559053.1:c.361del ENSP00000453952.1:p.Thr121HisfsTer19
ENST00000561288.1:c.56-30278del ENSP00000452639.1:n.56-30278del
NM_001110.3:c.1264del NP_001101.1:p.Thr422HisfsTer19
XM_005254117.2:c.1171del XP_005254174.1:p.Thr391HisfsTer19
NM_001320570.1:c.1171del NP_001307499.1:p.Thr391HisfsTer19
XM_024449818.1:c.1042del XP_024305586.1:p.Thr348HisfsTer19
NM_001110.4:c.1264del MANE Select NP_001101.1:p.Thr422HisfsTer19
NM_001320570.2:c.1171del NP_001307499.1:p.Thr391HisfsTer19