gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14167225_14167226del , CM000665.2:g.14167225_14167226del | GRCh38 |
| NC_000003.11:g.14208725_14208726del , CM000665.1:g.14208725_14208726del | GRCh37 |
| NC_000003.10:g.14183729_14183730del | NCBI36 |
| NG_011763.1:g.16449_16450del , LRG_472:g.16449_16450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.566_567del MANE Select | ENSP00000285021.8:p.Tyr189SerfsTer10 | |
| ENST00000285021.11:c.566_567del | ENSP00000285021.7:p.Tyr189SerfsTer10 | |
| ENST00000452172.1:n.331_332del | ||
| ENST00000455144.6:n.177_178del | ||
| ENST00000476581.6:c.*19_*20del | ENSP00000424548.1:n.*19_*20del | |
| ENST00000477324.6:n.44_45del | ||
| NM_004628.4:c.566_567del , LRG_472t1:c.566_567del | NP_004619.3:p.Tyr189SerfsTer10 | |
| NR_027299.1:n.546_547del | ||
| XM_011534092.1:c.566_567del | XP_011532394.1:p.Tyr189SerfsTer10 | |
| XM_011534093.1:c.566_567del | XP_011532395.1:p.Tyr189SerfsTer10 | |
| NM_001354726.1:c.-14_-13del | NP_001341655.1:n.-14_-13del | |
| NM_001354727.1:c.566_567del | NP_001341656.1:p.Tyr189SerfsTer10 | |
| NM_001354729.1:c.548_549del | NP_001341658.1:p.Tyr183SerfsTer10 | |
| NM_001354730.1:c.566_567del | NP_001341659.1:p.Tyr189SerfsTer10 | |
| NR_148950.1:n.670_671del | ||
| NR_148951.1:n.546_547del | ||
| XR_001740256.2:n.599_600del | ||
| XR_002959580.1:n.599_600del | ||
| XR_002959581.1:n.599_600del | ||
| NM_001354727.2:c.566_567del | NP_001341656.1:p.Tyr189SerfsTer10 | |
| NM_004628.5:c.566_567del MANE Select | NP_004619.3:p.Tyr189SerfsTer10 | |
| NR_148950.2:n.599_600del | ||
| NR_148951.2:n.475_476del | ||
| NM_001354726.2:c.-14_-13del | NP_001341655.1:n.-14_-13del | |
| NM_001354729.2:c.548_549del | NP_001341658.1:p.Tyr183SerfsTer10 | |
| NM_001354730.2:c.566_567del | NP_001341659.1:p.Tyr189SerfsTer10 |