Linked Data
gnomAD v4:
6-31270361-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270362dup , CM000668.2:g.31270362dup | GRCh38 |
| NC_000006.11:g.31238139dup , CM000668.1:g.31238139dup | GRCh37 |
| NC_000006.10:g.31346118dup | NCBI36 |
| NG_029422.2:g.6770dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.743dup MANE Select | ENSP00000365402.5:p.Thr249AspfsTer? | |
| ENST00000376228.9:c.743dup | ENSP00000365402.5:p.Thr249AspfsTer? | |
| ENST00000376237.8:c.*330dup | ENSP00000365412.4:n.*330dup | |
| ENST00000383329.7:c.743dup | ENSP00000372819.3:p.Thr249AspfsTer? | |
| ENST00000415537.1:c.665-31dup | ||
| ENST00000470363.5:n.61dup | ||
| ENST00000487245.5:n.1102dup | ||
| ENST00000495835.1:n.932dup | ||
| NM_002117.5:c.743dup | NP_002108.4:p.Thr249AspfsTer? | |
| NM_002117.6:c.743dup MANE Select | NP_002108.4:p.Thr249AspfsTer? |