Linked Data
gnomAD v4:
4-24800263-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800265_24800266del , CM000666.2:g.24800265_24800266del | GRCh38 |
| NC_000004.11:g.24801887_24801888del , CM000666.1:g.24801887_24801888del | GRCh37 |
| NC_000004.10:g.24410985_24410986del | NCBI36 |
| NG_012213.1:g.9803_9804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.*21_*22del MANE Select | ENSP00000371554.3:n.*21_*22del | |
| ENST00000382120.3:c.*21_*22del | ENSP00000371554.3:n.*21_*22del | |
| NM_003102.2:c.*21_*22del | NP_003093.2:n.*21_*22del | |
| XR_427488.1:n.934_935del | ||
| NM_003102.3:c.*21_*22del | NP_003093.2:n.*21_*22del | |
| NM_003102.4:c.*21_*22del MANE Select | NP_003093.2:n.*21_*22del |