Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200476_137200486dup , CM000671.2:g.137200476_137200486dup | GRCh38 |
| NC_000009.11:g.140094928_140094938dup , CM000671.1:g.140094928_140094938dup | GRCh37 |
| NC_000009.10:g.139214749_139214759dup | NCBI36 |
| NG_027801.1:g.5227_5237dup | |
| NG_027801.2:g.8709_8719dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.227_237dup MANE Select | NP_001121700.2:p.Leu80GlyfsTer? |
| ENST00000409012.6:c.227_237dup MANE Select | ENSP00000387100.4:p.Leu80GlyfsTer? |
| NM_001128228.2:c.227_237dup | NP_001121700.2:p.Leu80GlyfsTer? |
| ENST00000409012.4:c.227_237dup | ENSP00000387100.4:p.Leu80GlyfsTer? |
| ENST00000541945.1:n.90+3619_90+3629dup |