Linked Data
gnomAD v4:
6-31271429-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271433del , CM000668.2:g.31271433del | GRCh38 |
| NC_000006.11:g.31239210del , CM000668.1:g.31239210del | GRCh37 |
| NC_000006.10:g.31347189del | NCBI36 |
| NG_029422.2:g.5702del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-82del MANE Select | ENSP00000365402.5:n.344-82del | |
| ENST00000376228.9:c.344-82del | ENSP00000365402.5:n.344-82del | |
| ENST00000376237.8:c.344-99del | ENSP00000365412.4:n.344-99del | |
| ENST00000383329.7:c.344-82del | ENSP00000372819.3:n.344-82del | |
| ENST00000415537.1:c.342-82del | ||
| ENST00000484378.1:n.531del | ||
| ENST00000487245.5:n.621del | ||
| ENST00000495835.1:n.533-82del | ||
| NM_002117.5:c.344-82del | NP_002108.4:n.344-82del | |
| NM_002117.6:c.344-82del MANE Select | NP_002108.4:n.344-82del |