Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225654_5225657delinsTGTGG , CM000673.2:g.5225654_5225657delinsTGTGG | GRCh38 |
| NC_000011.9:g.5246884_5246887delinsTGTGG , CM000673.1:g.5246884_5246887delinsTGTGG | GRCh37 |
| NC_000011.8:g.5203460_5203463delinsTGTGG | NCBI36 |
| NG_000007.3:g.71959_71962delinsCCACA | |
| NG_059281.1:g.6415_6418delinsCCACA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.385_388delinsCCACA MANE Select | NP_000509.1:p.Ala129ProfsTer12 |
| ENST00000335295.4:c.385_388delinsCCACA MANE Select | ENSP00000333994.3:p.Ala129ProfsTer12 |
| NM_000518.4:c.385_388delinsCCACA | NP_000509.1:p.Ala129ProfsTer12 |
| ENST00000633227.1:c.*201_*204delinsCCACA | ENSP00000488004.1:n.*201_*204delinsCCACA |
| ENST00000647020.1:c.385_388delinsCCACA | ENSP00000494175.1:p.Ala129ProfsTer12 |