Linked Data
gnomAD v4:
X-25013497-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013498del , CM000685.2:g.25013498del | GRCh38 |
| NC_000023.10:g.25031615del , CM000685.1:g.25031615del | GRCh37 |
| NC_000023.9:g.24941536del | NCBI36 |
| NG_008281.1:g.7451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.497del MANE Select | ENSP00000368332.4:p.Gln166ArgfsTer2 | |
| ENST00000379044.4:c.497del | ENSP00000368332.4:p.Gln166ArgfsTer2 | |
| NM_139058.2:c.497del | NP_620689.1:p.Gln166ArgfsTer2 | |
| NM_139058.3:c.497del MANE Select | NP_620689.1:p.Gln166ArgfsTer2 |