Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124118_208124119delinsGA , CM000664.2:g.208124118_208124119delinsGA | GRCh38 |
| NC_000002.11:g.208988842_208988843delinsGA , CM000664.1:g.208988842_208988843delinsGA | GRCh37 |
| NC_000002.10:g.208697087_208697088delinsGA | NCBI36 |
| NG_008039.1:g.5471_5472delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.245_246delinsTC MANE Select | ENSP00000264376.4:p.Ile82= | |
| ENST00000264376.4:c.245_246delinsTC | ENSP00000264376.4:p.Ile82= | |
| NM_006891.3:c.245_246delinsTC | NP_008822.2:p.Ile82= | |
| NR_038437.1:n.97+4893_97+4894delinsGA | ||
| NM_006891.4:c.245_246delinsTC MANE Select | NP_008822.2:p.Ile82= |