Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622747_10622748delinsCG , CM000670.2:g.10622747_10622748delinsCG | GRCh38 |
| NC_000008.10:g.10480257_10480258delinsCG , CM000670.1:g.10480257_10480258delinsCG | GRCh37 |
| NC_000008.9:g.10517667_10517668delinsCG | NCBI36 |
| NG_028035.1:g.37360_37361delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.454_455delinsCG MANE Select | ENSP00000371923.3:p.Arg152= | |
| ENST00000329335.3:n.704_705delinsCG | ||
| ENST00000382483.3:c.454_455delinsCG | ENSP00000371923.3:p.Arg152= | |
| NM_178857.5:c.454_455delinsCG | NP_849188.4:p.Arg152= | |
| NM_178857.6:c.454_455delinsCG MANE Select | NP_849188.4:p.Arg152= |