Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271097_31271111del , CM000668.2:g.31271097_31271111del | GRCh38 |
| NC_000006.11:g.31238874_31238888del , CM000668.1:g.31238874_31238888del | GRCh37 |
| NC_000006.10:g.31346853_31346867del | NCBI36 |
| NG_029422.2:g.6022_6036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.582_596del MANE Select | ENSP00000365402.5:p.Tyr195_Gly199del | |
| ENST00000376228.9:c.582_596del | ENSP00000365402.5:p.Tyr195_Gly199del | |
| ENST00000376237.8:c.*169_*183del | ENSP00000365412.4:n.*169_*183del | |
| ENST00000383329.7:c.582_596del | ENSP00000372819.3:p.Tyr195_Gly199del | |
| ENST00000415537.1:c.580_594del | ||
| ENST00000487245.5:n.941_955del | ||
| ENST00000495835.1:n.771_785del | ||
| NM_002117.5:c.582_596del | NP_002108.4:p.Tyr195_Gly199del | |
| NM_002117.6:c.582_596del MANE Select | NP_002108.4:p.Tyr195_Gly199del |