Linked Data
gnomAD v4:
4-88008274-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008276del , CM000666.2:g.88008276del | GRCh38 |
| NC_000004.11:g.88929428del , CM000666.1:g.88929428del | GRCh37 |
| NC_000004.10:g.89148452del | NCBI36 |
| NG_008604.1:g.5609del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.543del MANE Select | ENSP00000237596.2:p.Gln183SerfsTer? | |
| ENST00000237596.6:c.543del | ENSP00000237596.2:p.Gln183SerfsTer? | |
| ENST00000506727.1:n.45del | ||
| NM_000297.3:c.543del | NP_000288.1:p.Gln183SerfsTer? | |
| XM_011532028.1:c.543del | XP_011530330.1:p.Gln183SerfsTer? | |
| XR_244632.2:n.638del | ||
| NR_156488.1:n.630del | ||
| XM_011532028.2:c.543del | XP_011530330.1:p.Gln183SerfsTer? | |
| NM_000297.4:c.543del MANE Select | NP_000288.1:p.Gln183SerfsTer? | |
| NR_156488.2:n.642del |