Linked Data
gnomAD v4:
6-31269517-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269521del , CM000668.2:g.31269521del | GRCh38 |
| NC_000006.11:g.31237298del , CM000668.1:g.31237298del | GRCh37 |
| NC_000006.10:g.31345277del | NCBI36 |
| NG_029422.2:g.7614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1023del MANE Select | ENSP00000365402.5:p.Gly342GlufsTer? | |
| ENST00000376228.9:c.1023del | ENSP00000365402.5:p.Gly342GlufsTer? | |
| ENST00000376237.8:c.*610del | ENSP00000365412.4:n.*610del | |
| ENST00000383329.7:c.1041del | ENSP00000372819.3:p.Gly348GlufsTer? | |
| ENST00000466892.5:n.149del | ||
| ENST00000470363.5:n.781del | ||
| ENST00000487245.5:n.1382del | ||
| NM_002117.5:c.1023del | NP_002108.4:p.Gly342GlufsTer? | |
| NM_002117.6:c.1023del MANE Select | NP_002108.4:p.Gly342GlufsTer? |