Linked Data
gnomAD v4:
6-31271101-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271102del , CM000668.2:g.31271102del | GRCh38 |
| NC_000006.11:g.31238879del , CM000668.1:g.31238879del | GRCh37 |
| NC_000006.10:g.31346858del | NCBI36 |
| NG_029422.2:g.6030del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.590del MANE Select | ENSP00000365402.5:p.Glu197GlyfsTer17 | |
| ENST00000376228.9:c.590del | ENSP00000365402.5:p.Glu197GlyfsTer17 | |
| ENST00000376237.8:c.*177del | ENSP00000365412.4:n.*177del | |
| ENST00000383329.7:c.590del | ENSP00000372819.3:p.Glu197GlyfsTer17 | |
| ENST00000415537.1:c.588del | ||
| ENST00000484378.1:n.859del | ||
| ENST00000487245.5:n.949del | ||
| ENST00000495835.1:n.779del | ||
| NM_002117.5:c.590del | NP_002108.4:p.Glu197GlyfsTer17 | |
| NM_002117.6:c.590del MANE Select | NP_002108.4:p.Glu197GlyfsTer17 |