Linked Data
gnomAD v4:
2-219060442-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060446del , CM000664.2:g.219060446del | GRCh38 |
| NC_000002.11:g.219925168del , CM000664.1:g.219925168del | GRCh37 |
| NC_000002.10:g.219633412del | NCBI36 |
| NG_016741.1:g.5074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.25del MANE Select | ENSP00000295731.5:p.Arg9AspfsTer? | |
| ENST00000295731.6:c.25del | ENSP00000295731.5:p.Arg9AspfsTer? | |
| NM_002181.3:c.25del | NP_002172.2:p.Arg9AspfsTer? | |
| NM_002181.4:c.25del MANE Select | NP_002172.2:p.Arg9AspfsTer? |