Linked Data
gnomAD v4:
17-72123870-AGCAGCAGGCGCCGCCGCCACCCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123878_72123901del , CM000679.2:g.72123878_72123901del | GRCh38 |
| NC_000017.10:g.70120019_70120042del , CM000679.1:g.70120019_70120042del | GRCh37 |
| NC_000017.9:g.67631614_67631637del | NCBI36 |
| NG_012490.1:g.7859_7882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1021_1044del MANE Select | ENSP00000245479.2:p.Ala341_Gln348del | |
| ENST00000245479.2:c.1021_1044del | ENSP00000245479.2:p.Ala341_Gln348del | |
| NM_000346.3:c.1021_1044del | NP_000337.1:p.Ala341_Gln348del | |
| NM_000346.4:c.1021_1044del MANE Select | NP_000337.1:p.Ala341_Gln348del |