Linked Data
dbSNP Id:
rs1486338182
gnomAD v2:
4-56225620-GTT-G
gnomAD v3:
4-55359453-GTT-G
gnomAD v4:
4-55359453-GTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55359455_55359456del , CM000666.2:g.55359455_55359456del | GRCh38 |
| NC_000004.11:g.56225622_56225623del , CM000666.1:g.56225622_56225623del | GRCh37 |
| NC_000004.10:g.55920379_55920380del | NCBI36 |
| NG_028230.1:g.18235_18236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.331_332del MANE Select | ENSP00000264228.4:p.Leu111AlafsTer? | |
| ENST00000677177.2:c.44_45del | ||
| ENST00000678717.1:n.228_229del | ||
| ENST00000679351.1:c.331_332del | ENSP00000505676.1:p.Leu111AlafsTer16 | |
| ENST00000679707.1:c.331_332del | ENSP00000505713.1:p.Leu111AlafsTer? | |
| ENST00000679836.1:c.331_332del | ENSP00000506601.1:p.Leu111AlafsTer? | |
| ENST00000680700.1:c.331_332del | ENSP00000504926.1:p.Leu111AlafsTer? | |
| ENST00000264228.8:c.331_332del | ENSP00000264228.4:p.Leu111AlafsTer? | |
| ENST00000505210.1:c.256_257del | ENSP00000424714.1:p.Leu86AlafsTer17 | |
| ENST00000514398.1:n.340_341del | ||
| NM_024592.4:c.331_332del | NP_078868.1:p.Leu111AlafsTer? | |
| XM_005265766.2:c.331_332del | XP_005265823.1:p.Leu111AlafsTer? | |
| XM_005265767.2:c.331_332del | XP_005265824.1:p.Leu111AlafsTer17 | |
| XM_005265766.4:c.331_332del | XP_005265823.1:p.Leu111AlafsTer? | |
| XM_005265767.3:c.331_332del | XP_005265824.1:p.Leu111AlafsTer17 | |
| XM_017008601.1:c.196_197del | XP_016864090.1:p.Leu66AlafsTer? | |
| NM_024592.5:c.331_332del MANE Select | NP_078868.1:p.Leu111AlafsTer? |