Linked Data
gnomAD v4:
4-52027976-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027977del , CM000666.2:g.52027977del | GRCh38 |
| NC_000004.11:g.52894143del , CM000666.1:g.52894143del | GRCh37 |
| NC_000004.10:g.52588900del | NCBI36 |
| NG_008891.1:g.15343del , LRG_204:g.15343del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.744del MANE Select | ENSP00000370839.6:p.Glu248AspfsTer2 | |
| ENST00000381431.9:c.744del | ENSP00000370839.5:p.Glu248AspfsTer2 | |
| NM_000232.4:c.744del , LRG_204t1:c.744del | NP_000223.1:p.Glu248AspfsTer2 | |
| XM_006714049.2:c.447del | XP_006714112.1:p.Glu149AspfsTer2 | |
| XM_011534403.1:c.534del | XP_011532705.1:p.Glu178AspfsTer2 | |
| XM_011534404.1:c.447del | XP_011532706.1:p.Glu149AspfsTer2 | |
| NM_000232.5:c.744del MANE Select | NP_000223.1:p.Glu248AspfsTer2 |