Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225633_5225634delinsCA , CM000673.2:g.5225633_5225634delinsCA | GRCh38 |
| NC_000011.9:g.5246863_5246864delinsCA , CM000673.1:g.5246863_5246864delinsCA | GRCh37 |
| NC_000011.8:g.5203439_5203440delinsCA | NCBI36 |
| NG_000007.3:g.71982_71983delinsTG | |
| NG_059281.1:g.6438_6439delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.408_409delinsTG | ENSP00000494175.1:p.Ala136= | |
| ENST00000335295.4:c.408_409delinsTG MANE Select | ENSP00000333994.3:p.Ala136= | |
| ENST00000633227.1:c.*224_*225delinsTG | ENSP00000488004.1:n.*224_*225delinsTG | |
| NM_000518.4:c.408_409delinsTG | NP_000509.1:p.Ala136= | |
| NM_000518.5:c.408_409delinsTG MANE Select | NP_000509.1:p.Ala136= |