Linked Data
gnomAD v4:
4-88008236-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008237del , CM000666.2:g.88008237del | GRCh38 |
| NC_000004.11:g.88929389del , CM000666.1:g.88929389del | GRCh37 |
| NC_000004.10:g.89148413del | NCBI36 |
| NG_008604.1:g.5570del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.504del MANE Select | ENSP00000237596.2:p.Gly169AlafsTer? | |
| ENST00000237596.6:c.504del | ENSP00000237596.2:p.Gly169AlafsTer? | |
| ENST00000506727.1:n.6del | ||
| NM_000297.3:c.504del | NP_000288.1:p.Gly169AlafsTer? | |
| XM_011532028.1:c.504del | XP_011530330.1:p.Gly169AlafsTer? | |
| XR_244632.2:n.599del | ||
| NR_156488.1:n.591del | ||
| XM_011532028.2:c.504del | XP_011530330.1:p.Gly169AlafsTer? | |
| NM_000297.4:c.504del MANE Select | NP_000288.1:p.Gly169AlafsTer? | |
| NR_156488.2:n.603del |