Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789637_135789638del , CM000664.2:g.135789637_135789638del | GRCh38 |
| NC_000002.11:g.136547207_136547208del , CM000664.1:g.136547207_136547208del | GRCh37 |
| NC_000002.10:g.136263677_136263678del | NCBI36 |
| NG_008104.2:g.70534_70535del , LRG_338:g.70534_70535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5498_5499del MANE Select | ENSP00000264162.2:p.Ser1833CysfsTer9 | |
| ENST00000264162.6:c.5498_5499del | ENSP00000264162.2:p.Ser1833CysfsTer9 | |
| NM_002299.2:c.5498_5499del , LRG_338t1:c.5498_5499del | NP_002290.2:p.Ser1833CysfsTer9 | |
| NM_002299.3:c.5498_5499del | NP_002290.2:p.Ser1833CysfsTer9 | |
| NM_002299.4:c.5498_5499del MANE Select | NP_002290.2:p.Ser1833CysfsTer9 |