Linked Data
gnomAD v4:
X-153736147-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736156_153736158del , CM000685.2:g.153736156_153736158del | GRCh38 |
| NC_000023.10:g.153001610_153001612del , CM000685.1:g.153001610_153001612del | GRCh37 |
| NC_000023.9:g.152654804_152654806del | NCBI36 |
| NG_009022.2:g.16289_16291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1126_1128del MANE Select | ENSP00000218104.3:p.Glu376del | |
| ENST00000218104.5:c.1126_1128del | ENSP00000218104.3:p.Glu376del | |
| ENST00000443684.2:n.129_131del | ||
| NM_000033.3:c.1126_1128del | NP_000024.2:p.Glu376del | |
| XR_938507.1:n.1542_1544del | ||
| XR_938507.2:n.1542_1544del | ||
| NM_000033.4:c.1126_1128del MANE Select | NP_000024.2:p.Glu376del |