Linked Data
gnomAD v4:
2-176093683-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093686_176093687del , CM000664.2:g.176093686_176093687del | GRCh38 |
| NC_000002.11:g.176958414_176958415del , CM000664.1:g.176958414_176958415del | GRCh37 |
| NC_000002.10:g.176666660_176666661del | NCBI36 |
| NG_008137.1:g.5883_5884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.781+15_781+16del MANE Select | ENSP00000376322.3:n.781+15_781+16del | |
| ENST00000392539.3:c.781+15_781+16del | ENSP00000376322.3:n.781+15_781+16del | |
| NM_000523.3:c.781+15_781+16del | NP_000514.2:n.781+15_781+16del | |
| XM_011511068.1:c.725-794_725-793del | XP_011509370.1:n.725-794_725-793del | |
| XM_011511068.2:c.725-794_725-793del | XP_011509370.1:n.725-794_725-793del | |
| NM_000523.4:c.781+15_781+16del MANE Select | NP_000514.2:n.781+15_781+16del |