Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225652_5225653delinsGG , CM000673.2:g.5225652_5225653delinsGG | GRCh38 |
| NC_000011.9:g.5246882_5246883delinsGG , CM000673.1:g.5246882_5246883delinsGG | GRCh37 |
| NC_000011.8:g.5203458_5203459delinsGG | NCBI36 |
| NG_000007.3:g.71963_71964delinsCC | |
| NG_059281.1:g.6419_6420delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.389_390delinsCC | ENSP00000494175.1:p.Ala130= | |
| ENST00000335295.4:c.389_390delinsCC MANE Select | ENSP00000333994.3:p.Ala130= | |
| ENST00000633227.1:c.*205_*206delinsCC | ENSP00000488004.1:n.*205_*206delinsCC | |
| NM_000518.4:c.389_390delinsCC | NP_000509.1:p.Ala130= | |
| NM_000518.5:c.389_390delinsCC MANE Select | NP_000509.1:p.Ala130= |