Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640687_215640688del , CM000663.2:g.215640687_215640688del | GRCh38 |
| NC_000001.10:g.215814029_215814030del , CM000663.1:g.215814029_215814030del | GRCh37 |
| NC_000001.9:g.213880652_213880653del | NCBI36 |
| NG_009497.1:g.787709_787710del | |
| NG_009497.2:g.787761_787762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14838_14839del MANE Select | ENSP00000305941.3:p.Val4949GlufsTer4 | |
| ENST00000674083.1:c.14838_14839del | ENSP00000501296.1:p.Val4949GlufsTer4 | |
| ENST00000307340.7:c.14838_14839del | ENSP00000305941.3:p.Val4949GlufsTer4 | |
| NM_206933.2:c.14838_14839del | NP_996816.2:p.Val4949GlufsTer4 | |
| NM_206933.3:c.14838_14839del | NP_996816.2:p.Val4949GlufsTer4 | |
| NM_206933.4:c.14838_14839del MANE Select | NP_996816.3:p.Val4949GlufsTer4 |