Linked Data
gnomAD v4:
X-50915965-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915966del , CM000685.2:g.50915966del | GRCh38 |
| NC_000023.10:g.50658966del , CM000685.1:g.50658966del | GRCh37 |
| NC_000023.9:g.50675706del | NCBI36 |
| NG_012894.1:g.10183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.538del MANE Select | ENSP00000252677.3:p.Ala180LeufsTer? | |
| ENST00000252677.3:c.538del | ENSP00000252677.3:p.Ala180LeufsTer? | |
| NM_005448.2:c.538del MANE Select | NP_005439.2:p.Ala180LeufsTer? |