Linked Data
gnomAD v4:
14-23431438-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431440del , CM000676.2:g.23431440del | GRCh38 |
| NC_000014.8:g.23900649del , CM000676.1:g.23900649del | GRCh37 |
| NC_000014.7:g.22970489del | NCBI36 |
| NG_007884.1:g.9223del , LRG_384:g.9223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.775del MANE Select | ENSP00000347507.3:p.Ala259HisfsTer5 | |
| ENST00000355349.3:c.775del | ENSP00000347507.3:p.Ala259HisfsTer5 | |
| NM_000257.3:c.775del | NP_000248.2:p.Ala259HisfsTer5 | |
| XR_245686.3:n.881del | ||
| XM_017021340.1:c.775del | XP_016876829.1:p.Ala259HisfsTer5 | |
| NM_000257.4:c.775del MANE Select | NP_000248.2:p.Ala259HisfsTer5 |