Linked Data
gnomAD v4:
6-31269535-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269539del , CM000668.2:g.31269539del | GRCh38 |
| NC_000006.11:g.31237316del , CM000668.1:g.31237316del | GRCh37 |
| NC_000006.10:g.31345295del | NCBI36 |
| NG_029422.2:g.7596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1016-11del MANE Select | ENSP00000365402.5:n.1016-11del | |
| ENST00000376228.9:c.1016-11del | ENSP00000365402.5:n.1016-11del | |
| ENST00000376237.8:c.*603-11del | ENSP00000365412.4:n.*603-11del | |
| ENST00000383329.7:c.1023del | ENSP00000372819.3:p.Leu342PhefsTer? | |
| ENST00000466892.5:n.131del | ||
| ENST00000470363.5:n.763del | ||
| ENST00000487245.5:n.1375-11del | ||
| NM_002117.5:c.1016-11del | NP_002108.4:n.1016-11del | |
| NM_002117.6:c.1016-11del MANE Select | NP_002108.4:n.1016-11del |