Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225649_5225665del , CM000673.2:g.5225649_5225665del | GRCh38 |
| NC_000011.9:g.5246879_5246895del , CM000673.1:g.5246879_5246895del | GRCh37 |
| NC_000011.8:g.5203455_5203471del | NCBI36 |
| NG_000007.3:g.71954_71970del | |
| NG_059281.1:g.6410_6426del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.380_396del MANE Select | NP_000509.1:p.Val127GlufsTer8 |
| ENST00000335295.4:c.380_396del MANE Select | ENSP00000333994.3:p.Val127GlufsTer8 |
| NM_000518.4:c.380_396del | NP_000509.1:p.Val127GlufsTer8 |
| ENST00000633227.1:c.*196_*212del | ENSP00000488004.1:n.*196_*212del |
| ENST00000647020.1:c.380_396del | ENSP00000494175.1:p.Val127GlufsTer8 |