Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270009_31270017del , CM000668.2:g.31270009_31270017del | GRCh38 |
| NC_000006.11:g.31237786_31237794del , CM000668.1:g.31237786_31237794del | GRCh37 |
| NC_000006.10:g.31345765_31345773del | NCBI36 |
| NG_029422.2:g.7116_7124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.965_973del MANE Select | ENSP00000365402.5:p.Ala322_Leu324del | |
| ENST00000376228.9:c.965_973del | ENSP00000365402.5:p.Ala322_Leu324del | |
| ENST00000376237.8:c.*552_*560del | ENSP00000365412.4:n.*552_*560del | |
| ENST00000383329.7:c.965_973del | ENSP00000372819.3:p.Ala322_Leu324del | |
| ENST00000470363.5:n.283_291del | ||
| ENST00000487245.5:n.1324_1332del | ||
| NM_002117.5:c.965_973del | NP_002108.4:p.Ala322_Leu324del | |
| NM_002117.6:c.965_973del MANE Select | NP_002108.4:p.Ala322_Leu324del |