Linked Data
gnomAD v4:
4-88008296-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008297_88008298del , CM000666.2:g.88008297_88008298del | GRCh38 |
| NC_000004.11:g.88929449_88929450del , CM000666.1:g.88929449_88929450del | GRCh37 |
| NC_000004.10:g.89148473_89148474del | NCBI36 |
| NG_008604.1:g.5630_5631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.564_565del MANE Select | ENSP00000237596.2:p.Trp189GlyfsTer23 | |
| ENST00000237596.6:c.564_565del | ENSP00000237596.2:p.Trp189GlyfsTer23 | |
| ENST00000506727.1:n.66_67del | ||
| NM_000297.3:c.564_565del | NP_000288.1:p.Trp189GlyfsTer23 | |
| XM_011532028.1:c.564_565del | XP_011530330.1:p.Trp189GlyfsTer23 | |
| XR_244632.2:n.659_660del | ||
| NR_156488.1:n.651_652del | ||
| XM_011532028.2:c.564_565del | XP_011530330.1:p.Trp189GlyfsTer23 | |
| NM_000297.4:c.564_565del MANE Select | NP_000288.1:p.Trp189GlyfsTer23 | |
| NR_156488.2:n.663_664del |