Linked Data
gnomAD v4:
X-154379314-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379316_154379317del , CM000685.2:g.154379316_154379317del | GRCh38 |
| NC_000023.10:g.153607676_153607677del , CM000685.1:g.153607676_153607677del | GRCh37 |
| NC_000023.9:g.153260870_153260871del | NCBI36 |
| NG_008677.1:g.9881_9882del , LRG_745:g.9881_9882del | |
| NG_011506.1:g.331_332del | |
| NG_011506.2:g.323_324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-169_-168del MANE Select | ENSP00000358857.4:n.-169_-168del | |
| ENST00000369835.3:c.-169_-168del | ENSP00000358850.3:n.-169_-168del | |
| ENST00000369842.8:c.-169_-168del | ENSP00000358857.4:n.-169_-168del | |
| NM_000117.2:c.-169_-168del , LRG_745t1:c.-169_-168del | NP_000108.1:n.-169_-168del | |
| XM_024452349.1:c.-377_-376del | XP_024308117.1:n.-377_-376del | |
| NM_000117.3:c.-169_-168del MANE Select | NP_000108.1:n.-169_-168del |