Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750497_27750500delinsGAAA , CM000684.2:g.27750497_27750500delinsGAAA | GRCh38 |
| NC_000022.10:g.28146485_28146488delinsGAAA , CM000684.1:g.28146485_28146488delinsGAAA | GRCh37 |
| NC_000022.9:g.26476485_26476488delinsGAAA | NCBI36 |
| NG_023258.1:g.55999_56002delinsTTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.903_906delinsTTTC | ||
| ENST00000302326.5:c.*415_*418delinsTTTC MANE Select | ENSP00000304956.4:n.*415_*418delinsTTTC | |
| ENST00000302326.4:c.*415_*418delinsTTTC | ENSP00000304956.4:n.*415_*418delinsTTTC | |
| ENST00000424656.1:c.456-272_456-269delinsTTTC | ||
| NM_002430.2:c.*415_*418delinsTTTC | NP_002421.3:n.*415_*418delinsTTTC | |
| NM_002430.3:c.*415_*418delinsTTTC MANE Select | NP_002421.3:n.*415_*418delinsTTTC |