Linked Data
gnomAD v4:
4-88008233-CAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008234_88008236del , CM000666.2:g.88008234_88008236del | GRCh38 |
| NC_000004.11:g.88929386_88929388del , CM000666.1:g.88929386_88929388del | GRCh37 |
| NC_000004.10:g.89148410_89148412del | NCBI36 |
| NG_008604.1:g.5567_5569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.501_503del MANE Select | ENSP00000237596.2:p.Val168del | |
| ENST00000237596.6:c.501_503del | ENSP00000237596.2:p.Val168del | |
| ENST00000506727.1:n.3_5del | ||
| NM_000297.3:c.501_503del | NP_000288.1:p.Val168del | |
| XM_011532028.1:c.501_503del | XP_011530330.1:p.Val168del | |
| XR_244632.2:n.596_598del | ||
| NR_156488.1:n.588_590del | ||
| XM_011532028.2:c.501_503del | XP_011530330.1:p.Val168del | |
| NM_000297.4:c.501_503del MANE Select | NP_000288.1:p.Val168del | |
| NR_156488.2:n.600_602del |