Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215634680_215634681delinsCG , CM000663.2:g.215634680_215634681delinsCG | GRCh38 |
| NC_000001.10:g.215808022_215808023delinsCG , CM000663.1:g.215808022_215808023delinsCG | GRCh37 |
| NC_000001.9:g.213874645_213874646delinsCG | NCBI36 |
| NG_009497.1:g.793716_793717delinsCG | |
| NG_009497.2:g.793768_793769delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.15075_15076delinsCG MANE Select | ENSP00000305941.3:p.Lys5026Glu | |
| ENST00000674083.1:c.15075_15076delinsCG | ENSP00000501296.1:p.Lys5026Glu | |
| ENST00000307340.7:c.15075_15076delinsCG | ENSP00000305941.3:p.Lys5026Glu | |
| NM_206933.2:c.15075_15076delinsCG | NP_996816.2:p.Lys5026Glu | |
| NM_206933.3:c.15075_15076delinsCG | NP_996816.2:p.Lys5026Glu | |
| NM_206933.4:c.15075_15076delinsCG MANE Select | NP_996816.3:p.Lys5026Glu |