Linked Data
gnomAD v4:
X-153740322-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740325_153740326del , CM000685.2:g.153740325_153740326del | GRCh38 |
| NC_000023.10:g.153005779_153005780del , CM000685.1:g.153005779_153005780del | GRCh37 |
| NC_000023.9:g.152658973_152658974del | NCBI36 |
| NG_009022.2:g.20458_20459del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1634+88_1634+89del MANE Select | ENSP00000218104.3:n.1634+88_1634+89del | |
| ENST00000218104.5:c.1634+88_1634+89del | ENSP00000218104.3:n.1634+88_1634+89del | |
| ENST00000443684.2:n.637+88_637+89del | ||
| NM_000033.3:c.1634+88_1634+89del | NP_000024.2:n.1634+88_1634+89del | |
| XR_938507.1:n.2106+88_2106+89del | ||
| XR_938507.2:n.2106+88_2106+89del | ||
| NM_000033.4:c.1634+88_1634+89del MANE Select | NP_000024.2:n.1634+88_1634+89del |