Linked Data
ClinVar Variation Id:
219223
ClinVar RCV Id:
RCV000208706
dbSNP Id:
rs869025220
PubMed:
PMID:26924530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1338094del , CM000663.2:g.1338094del | GRCh38 |
| NC_000001.10:g.1273474del , CM000663.1:g.1273474del | GRCh37 |
| NC_000001.9:g.1263337del | NCBI36 |
| NG_008048.1:g.16020del | |
| NG_008048.2:g.16020del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378888.10:c.1598del MANE Select | ENSP00000368166.5:p.Pro533LeufsTer? | |
| ENST00000378888.9:c.1598del | ENSP00000368166.5:p.Pro533LeufsTer? | |
| ENST00000378891.9:c.1523del | ENSP00000368169.5:p.Pro508LeufsTer? | |
| ENST00000610709.2:c.845del | ENSP00000480077.1:p.Pro282LeufsTer? | |
| ENST00000631679.1:c.629del | ENSP00000488181.1:p.Pro210LeufsTer? | |
| ENST00000632445.1:c.527del | ENSP00000488888.1:p.Pro176LeufsTer? | |
| NM_004421.2:c.1523del | NP_004412.2:p.Pro508LeufsTer? | |
| XM_005244731.2:c.1598del | XP_005244788.1:p.Pro533LeufsTer? | |
| XM_005244732.2:c.1598del | XP_005244789.1:p.Pro533LeufsTer? | |
| XM_005244733.2:c.1523del | XP_005244790.1:p.Pro508LeufsTer? | |
| NM_001330311.1:c.1598del | NP_001317240.1:p.Pro533LeufsTer? | |
| XM_005244732.4:c.1598del | XP_005244789.1:p.Pro533LeufsTer? | |
| XM_005244733.4:c.1523del | XP_005244790.1:p.Pro508LeufsTer? | |
| NM_001330311.2:c.1598del MANE Select | NP_001317240.1:p.Pro533LeufsTer? | |
| NM_004421.3:c.1523del | NP_004412.2:p.Pro508LeufsTer? |