Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191792_186191793delinsCG , CM000666.2:g.186191792_186191793delinsCG | GRCh38 |
| NC_000004.11:g.187112946_187112947delinsCG , CM000666.1:g.187112946_187112947delinsCG | GRCh37 |
| NC_000004.10:g.187349940_187349941delinsCG | NCBI36 |
| NG_007965.1:g.5273_5274delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-32_-31delinsCG MANE Select | ENSP00000368079.4:n.-32_-31delinsCG | |
| ENST00000378802.4:c.-32_-31delinsCG | ENSP00000368079.4:n.-32_-31delinsCG | |
| NM_207352.3:c.-32_-31delinsCG | NP_997235.3:n.-32_-31delinsCG | |
| XM_005262935.2:c.-32_-31delinsCG | XP_005262992.1:n.-32_-31delinsCG | |
| XM_005262935.4:c.-32_-31delinsCG | XP_005262992.1:n.-32_-31delinsCG | |
| XM_017008037.1:c.-342_-341delinsCG | XP_016863526.1:n.-342_-341delinsCG | |
| NM_207352.4:c.-32_-31delinsCG MANE Select | NP_997235.3:n.-32_-31delinsCG |