Linked Data
ClinVar Variation Id:
88842
ClinVar RCV Id:
RCV000074430
dbSNP Id:
rs483352915
PubMed:
PMID:23666529
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 |