Linked Data
gnomAD v4:
6-31271298-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271301del , CM000668.2:g.31271301del | GRCh38 |
| NC_000006.11:g.31239078del , CM000668.1:g.31239078del | GRCh37 |
| NC_000006.10:g.31347057del | NCBI36 |
| NG_029422.2:g.5833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.393del MANE Select | ENSP00000365402.5:p.Arg132AlafsTer19 | |
| ENST00000376228.9:c.393del | ENSP00000365402.5:p.Arg132AlafsTer19 | |
| ENST00000376237.8:c.376del | ENSP00000365412.4:p.Ala126ArgfsTer? | |
| ENST00000383329.7:c.393del | ENSP00000372819.3:p.Arg132AlafsTer19 | |
| ENST00000415537.1:c.391del | ||
| ENST00000484378.1:n.662del | ||
| ENST00000487245.5:n.752del | ||
| ENST00000495835.1:n.582del | ||
| NM_002117.5:c.393del | NP_002108.4:p.Arg132AlafsTer19 | |
| NM_002117.6:c.393del MANE Select | NP_002108.4:p.Arg132AlafsTer19 |