Linked Data
ClinVar Variation Id:
21457
ClinVar RCV Id:
RCV000020645
dbSNP Id:
rs80358267
PubMed:
PMID:20301473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493248del , CM000676.2:g.74493248del | GRCh38 |
| NC_000014.8:g.74959951del , CM000676.1:g.74959951del | GRCh37 |
| NC_000014.7:g.74029704del | NCBI36 |
| NG_007117.1:g.5134del | |
| NG_033074.1:g.4529del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555619.6:c.27del MANE Select | ENSP00000451112.2:p.Leu10SerfsTer25 | |
| ENST00000238633.6:c.27del | ENSP00000238633.2:p.Leu10SerfsTer25 | |
| ENST00000434013.6:c.27del | ENSP00000412103.2:p.Leu10SerfsTer25 | |
| ENST00000541064.5:c.27del | ENSP00000442488.1:p.Leu10SerfsTer25 | |
| ENST00000553490.5:c.27del | ENSP00000451180.1:p.Leu10SerfsTer25 | |
| ENST00000555592.1:c.27del | ENSP00000450887.1:p.Leu10SerfsTer25 | |
| ENST00000555619.5:c.27del | ENSP00000451112.1:p.Leu10SerfsTer25 | |
| ENST00000556009.5:c.147+783del | ||
| ENST00000557510.5:c.27del | ENSP00000451206.1:p.Leu10SerfsTer25 | |
| NM_006432.3:c.27del | NP_006423.1:p.Leu10SerfsTer25 | |
| NM_001363688.1:c.27del | NP_001350617.1:p.Leu10SerfsTer25 | |
| NM_006432.4:c.27del | NP_006423.1:p.Leu10SerfsTer25 | |
| NM_001375440.1:c.27del | NP_001362369.1:p.Leu10SerfsTer25 | |
| NM_006432.5:c.27del MANE Select | NP_006423.1:p.Leu10SerfsTer25 |