Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833181_135833182del , CM000664.2:g.135833181_135833182del | GRCh38 |
| NC_000002.11:g.136590751_136590752del , CM000664.1:g.136590751_136590752del | GRCh37 |
| NC_000002.10:g.136307221_136307222del | NCBI36 |
| NG_008104.2:g.26992_26993del , LRG_338:g.26992_26993del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.653_654del MANE Select | ENSP00000264162.2:p.Ser218CysfsTer6 | |
| ENST00000264162.6:c.653_654del | ENSP00000264162.2:p.Ser218CysfsTer6 | |
| NM_002299.2:c.653_654del , LRG_338t1:c.653_654del | NP_002290.2:p.Ser218CysfsTer6 | |
| NM_002299.3:c.653_654del | NP_002290.2:p.Ser218CysfsTer6 | |
| XM_017004088.2:c.653_654del | XP_016859577.1:p.Ser218CysfsTer6 | |
| NM_002299.4:c.653_654del MANE Select | NP_002290.2:p.Ser218CysfsTer6 |