Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200485_137200506del , CM000671.2:g.137200485_137200506del | GRCh38 |
| NC_000009.11:g.140094937_140094958del , CM000671.1:g.140094937_140094958del | GRCh37 |
| NC_000009.10:g.139214758_139214779del | NCBI36 |
| NG_027801.1:g.5214_5235del | |
| NG_027801.2:g.8696_8717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.214_235del MANE Select | ENSP00000387100.4:p.Gly72CysfsTer? | |
| ENST00000409012.4:c.214_235del | ENSP00000387100.4:p.Gly72CysfsTer? | |
| ENST00000541945.1:n.90+3606_90+3627del | ||
| NM_001128228.2:c.214_235del | NP_001121700.2:p.Gly72CysfsTer? | |
| NM_001128228.3:c.214_235del MANE Select | NP_001121700.2:p.Gly72CysfsTer? |