Linked Data
gnomAD v4:
6-31270380-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270381del , CM000668.2:g.31270381del | GRCh38 |
| NC_000006.11:g.31238158del , CM000668.1:g.31238158del | GRCh37 |
| NC_000006.10:g.31346137del | NCBI36 |
| NG_029422.2:g.6751del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.724del MANE Select | ENSP00000365402.5:p.Gln242SerfsTer? | |
| ENST00000376228.9:c.724del | ENSP00000365402.5:p.Gln242SerfsTer? | |
| ENST00000376237.8:c.*311del | ENSP00000365412.4:n.*311del | |
| ENST00000383329.7:c.724del | ENSP00000372819.3:p.Gln242SerfsTer? | |
| ENST00000415537.1:c.665-50del | ||
| ENST00000470363.5:n.42del | ||
| ENST00000487245.5:n.1083del | ||
| ENST00000495835.1:n.913del | ||
| NM_002117.5:c.724del | NP_002108.4:p.Gln242SerfsTer? | |
| NM_002117.6:c.724del MANE Select | NP_002108.4:p.Gln242SerfsTer? |