Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800026_24800027insA , CM000666.2:g.24800026_24800027insA | GRCh38 |
| NC_000004.11:g.24801648_24801649insA , CM000666.1:g.24801648_24801649insA | GRCh37 |
| NC_000004.10:g.24410746_24410747insA | NCBI36 |
| NG_012213.1:g.9564_9565insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.505_506insA MANE Select | ENSP00000371554.3:p.Gly169GlufsTer? | |
| ENST00000382120.3:c.505_506insA | ENSP00000371554.3:p.Gly169GlufsTer? | |
| NM_003102.2:c.505_506insA | NP_003093.2:p.Gly169GlufsTer? | |
| XR_427488.1:n.695_696insA | ||
| NM_003102.3:c.505_506insA | NP_003093.2:p.Gly169GlufsTer? | |
| NM_003102.4:c.505_506insA MANE Select | NP_003093.2:p.Gly169GlufsTer? |