Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268868_31268869del , CM000668.2:g.31268868_31268869del | GRCh38 |
| NC_000006.11:g.31236645_31236646del , CM000668.1:g.31236645_31236646del | GRCh37 |
| NC_000006.10:g.31344624_31344625del | NCBI36 |
| NG_029422.2:g.8263_8264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*300_*301del MANE Select | ENSP00000365402.5:n.*300_*301del | |
| ENST00000376228.9:c.*300_*301del | ENSP00000365402.5:n.*300_*301del | |
| ENST00000376237.8:c.*988_*989del | ENSP00000365412.4:n.*988_*989del | |
| ENST00000383329.7:c.*300_*301del | ENSP00000372819.3:n.*300_*301del | |
| ENST00000466892.5:n.634_635del | ||
| ENST00000470363.5:n.1159_1160del | ||
| ENST00000487245.5:n.1760_1761del | ||
| NM_002117.5:c.*300_*301del | NP_002108.4:n.*300_*301del | |
| NM_002117.6:c.*300_*301del MANE Select | NP_002108.4:n.*300_*301del |