Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268801_31268802del , CM000668.2:g.31268801_31268802del | GRCh38 |
| NC_000006.11:g.31236578_31236579del , CM000668.1:g.31236578_31236579del | GRCh37 |
| NC_000006.10:g.31344557_31344558del | NCBI36 |
| NG_029422.2:g.8330_8331del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*367_*368del MANE Select | ENSP00000365402.5:n.*367_*368del | |
| ENST00000376228.9:c.*367_*368del | ENSP00000365402.5:n.*367_*368del | |
| ENST00000376237.8:c.*1055_*1056del | ENSP00000365412.4:n.*1055_*1056del | |
| ENST00000383329.7:c.*367_*368del | ENSP00000372819.3:n.*367_*368del | |
| ENST00000466892.5:n.701_702del | ||
| ENST00000470363.5:n.1226_1227del | ||
| ENST00000487245.5:n.1827_1828del | ||
| NM_002117.5:c.*367_*368del | NP_002108.4:n.*367_*368del | |
| NM_002117.6:c.*367_*368del MANE Select | NP_002108.4:n.*367_*368del |