Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94067667_94067668delinsAG , CM000663.2:g.94067667_94067668delinsAG | GRCh38 |
| NC_000001.10:g.94533223_94533224delinsAG , CM000663.1:g.94533223_94533224delinsAG | GRCh37 |
| NC_000001.9:g.94305811_94305812delinsAG | NCBI36 |
| NG_009073.1:g.58482_58483delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1555-4351_1555-4350delinsCT MANE Select | ENSP00000359245.3:n.1555-4351_1555-4350delinsCT | |
| ENST00000649773.1:c.1555-4351_1555-4350delinsCT | ENSP00000496882.1:n.1555-4351_1555-4350delinsCT | |
| ENST00000370225.3:c.1555-4351_1555-4350delinsCT | ENSP00000359245.3:n.1555-4351_1555-4350delinsCT | |
| NM_000350.2:c.1555-4351_1555-4350delinsCT | NP_000341.2:n.1555-4351_1555-4350delinsCT | |
| NM_000350.3:c.1555-4351_1555-4350delinsCT MANE Select | NP_000341.2:n.1555-4351_1555-4350delinsCT |