Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[216097127G>A;216247095del] , CM000663.2:g.[216097127G>A;216247095del] | GRCh38 |
| NC_000001.10:g.[216270469G>A;216420437del] , CM000663.1:g.[216270469G>A;216420437del] | GRCh37 |
| NC_000001.9:g.[214337092G>A;214487060del] | NCBI36 |
| NG_009497.1:g.[181302del;331270C>T] | |
| NG_009497.2:g.[181354del;331322C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.[2299del;4714C>T] MANE Select | ENSP00000305941.3:p.Glu767SerfsTer21 | |
| ENST00000674083.1:c.[2299del;4714C>T] | ENSP00000501296.1:p.Glu767SerfsTer21 | |
| ENST00000307340.7:c.[2299del;4714C>T] | ENSP00000305941.3:p.Glu767SerfsTer21 | |
| NM_206933.2:c.[2299del;4714C>T] | NP_996816.2:p.Glu767SerfsTer21 | |
| NM_206933.3:c.[2299del;4714C>T] | NP_996816.2:p.Glu767SerfsTer21 | |
| NM_206933.4:c.[2299del;4714C>T] MANE Select | NP_996816.3:p.Glu767SerfsTer21 |