Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767516_28767517insG , CM000676.2:g.28767516_28767517insG | GRCh38 |
| NC_000014.8:g.29236722_29236723insG , CM000676.1:g.29236722_29236723insG | GRCh37 |
| NC_000014.7:g.28306473_28306474insG | NCBI36 |
| NG_009367.1:g.5436_5437insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.237_238insG | ENSP00000516406.1:p.Pro80AlafsTer? | |
| ENST00000313071.7:c.237_238insG MANE Select | ENSP00000339004.3:p.Pro80AlafsTer? | |
| ENST00000313071.6:c.237_238insG | ENSP00000339004.3:p.Pro80AlafsTer? | |
| NM_005249.4:c.237_238insG | NP_005240.3:p.Pro80AlafsTer? | |
| NM_005249.5:c.237_238insG MANE Select | NP_005240.3:p.Pro80AlafsTer? |