Linked Data
gnomAD v4:
6-31269515-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269517dup , CM000668.2:g.31269517dup | GRCh38 |
| NC_000006.11:g.31237294dup , CM000668.1:g.31237294dup | GRCh37 |
| NC_000006.10:g.31345273dup | NCBI36 |
| NG_029422.2:g.7616dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1025dup MANE Select | ENSP00000365402.5:p.Gly343ArgfsTer16 | |
| ENST00000376228.9:c.1025dup | ENSP00000365402.5:p.Gly343ArgfsTer16 | |
| ENST00000376237.8:c.*612dup | ENSP00000365412.4:n.*612dup | |
| ENST00000383329.7:c.1043dup | ENSP00000372819.3:p.Gly349ArgfsTer16 | |
| ENST00000466892.5:n.151dup | ||
| ENST00000470363.5:n.783dup | ||
| ENST00000487245.5:n.1384dup | ||
| NM_002117.5:c.1025dup | NP_002108.4:p.Gly343ArgfsTer16 | |
| NM_002117.6:c.1025dup MANE Select | NP_002108.4:p.Gly343ArgfsTer16 |