Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225620_5225621delinsAT , CM000673.2:g.5225620_5225621delinsAT | GRCh38 |
| NC_000011.9:g.5246850_5246851delinsAT , CM000673.1:g.5246850_5246851delinsAT | GRCh37 |
| NC_000011.8:g.5203426_5203427delinsAT | NCBI36 |
| NG_000007.3:g.71995_71996delinsAT | |
| NG_059281.1:g.6451_6452delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.421_422delinsAT | ENSP00000494175.1:p.Ala141Ile | |
| ENST00000335295.4:c.421_422delinsAT MANE Select | ENSP00000333994.3:p.Ala141Ile | |
| ENST00000633227.1:c.*237_*238delinsAT | ENSP00000488004.1:n.*237_*238delinsAT | |
| NM_000518.4:c.421_422delinsAT | NP_000509.1:p.Ala141Ile | |
| NM_000518.5:c.421_422delinsAT MANE Select | NP_000509.1:p.Ala141Ile |