Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954834_86954842delinsCGGTGTGAA , CM000673.2:g.86954834_86954842delinsCGGTGTGAA | GRCh38 |
| NC_000011.9:g.86665876_86665884delinsCGGTGTGAA , CM000673.1:g.86665876_86665884delinsCGGTGTGAA | GRCh37 |
| NC_000011.8:g.86343524_86343532delinsCGGTGTGAA | NCBI36 |
| NG_011752.1:g.5550_5558delinsTTCACACCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.244_252delinsTTCACACCG MANE Select | ENSP00000434034.1:p.Phe82= | |
| ENST00000531380.1:c.244_252delinsTTCACACCG | ENSP00000434034.1:p.Phe82= | |
| NM_012193.3:c.244_252delinsTTCACACCG | NP_036325.2:p.Phe82= | |
| NM_012193.4:c.244_252delinsTTCACACCG MANE Select | NP_036325.2:p.Phe82= |