Linked Data
gnomAD v4:
6-31271132-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271133del , CM000668.2:g.31271133del | GRCh38 |
| NC_000006.11:g.31238910del , CM000668.1:g.31238910del | GRCh37 |
| NC_000006.10:g.31346889del | NCBI36 |
| NG_029422.2:g.5999del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.559del MANE Select | ENSP00000365402.5:p.Thr187ArgfsTer27 | |
| ENST00000376228.9:c.559del | ENSP00000365402.5:p.Thr187ArgfsTer27 | |
| ENST00000376237.8:c.*146del | ENSP00000365412.4:n.*146del | |
| ENST00000383329.7:c.559del | ENSP00000372819.3:p.Thr187ArgfsTer27 | |
| ENST00000415537.1:c.557del | ||
| ENST00000484378.1:n.828del | ||
| ENST00000487245.5:n.918del | ||
| ENST00000495835.1:n.748del | ||
| NM_002117.5:c.559del | NP_002108.4:p.Thr187ArgfsTer27 | |
| NM_002117.6:c.559del MANE Select | NP_002108.4:p.Thr187ArgfsTer27 |