Linked Data
gnomAD v4:
6-31270435-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270436_31270437del , CM000668.2:g.31270436_31270437del | GRCh38 |
| NC_000006.11:g.31238213_31238214del , CM000668.1:g.31238213_31238214del | GRCh37 |
| NC_000006.10:g.31346192_31346193del | NCBI36 |
| NG_029422.2:g.6695_6696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.668_669del MANE Select | ENSP00000365402.5:p.Ala223AspfsTer? | |
| ENST00000376228.9:c.668_669del | ENSP00000365402.5:p.Ala223AspfsTer? | |
| ENST00000376237.8:c.*255_*256del | ENSP00000365412.4:n.*255_*256del | |
| ENST00000383329.7:c.668_669del | ENSP00000372819.3:p.Ala223AspfsTer? | |
| ENST00000415537.1:c.664+2_664+3del | ||
| ENST00000487245.5:n.1027_1028del | ||
| ENST00000495835.1:n.857_858del | ||
| NM_002117.5:c.668_669del | NP_002108.4:p.Ala223AspfsTer? | |
| NM_002117.6:c.668_669del MANE Select | NP_002108.4:p.Ala223AspfsTer? |