Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200496_137200506dup , CM000671.2:g.137200496_137200506dup | GRCh38 |
| NC_000009.11:g.140094948_140094958dup , CM000671.1:g.140094948_140094958dup | GRCh37 |
| NC_000009.10:g.139214769_139214779dup | NCBI36 |
| NG_027801.1:g.5225_5235dup | |
| NG_027801.2:g.8707_8717dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.225_235dup MANE Select | NP_001121700.2:p.Leu79ArgfsTer? |
| ENST00000409012.6:c.225_235dup MANE Select | ENSP00000387100.4:p.Leu79ArgfsTer? |
| NM_001128228.2:c.225_235dup | NP_001121700.2:p.Leu79ArgfsTer? |
| ENST00000409012.4:c.225_235dup | ENSP00000387100.4:p.Leu79ArgfsTer? |
| ENST00000541945.1:n.90+3617_90+3627dup |