Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767515_28767516insG , CM000676.2:g.28767515_28767516insG | GRCh38 |
| NC_000014.8:g.29236721_29236722insG , CM000676.1:g.29236721_29236722insG | GRCh37 |
| NC_000014.7:g.28306472_28306473insG | NCBI36 |
| NG_009367.1:g.5435_5436insG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.236_237insG MANE Select | NP_005240.3:p.Ala81GlyfsTer? |
| ENST00000313071.7:c.236_237insG MANE Select | ENSP00000339004.3:p.Ala81GlyfsTer? |
| NM_005249.4:c.236_237insG | NP_005240.3:p.Ala81GlyfsTer? |
| ENST00000313071.6:c.236_237insG | ENSP00000339004.3:p.Ala81GlyfsTer? |
| ENST00000706482.1:c.236_237insG | ENSP00000516406.1:p.Ala81GlyfsTer? |