Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271615_31271616del , CM000668.2:g.31271615_31271616del | GRCh38 |
| NC_000006.11:g.31239392_31239393del , CM000668.1:g.31239392_31239393del | GRCh37 |
| NC_000006.10:g.31347371_31347372del | NCBI36 |
| NG_029422.2:g.5517_5518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.327_328del MANE Select | ENSP00000365402.5:p.Tyr109Ter | |
| ENST00000376228.9:c.327_328del | ENSP00000365402.5:p.Tyr109Ter | |
| ENST00000376237.8:c.327_328del | ENSP00000365412.4:p.Tyr109Ter | |
| ENST00000383329.7:c.327_328del | ENSP00000372819.3:p.Tyr109Ter | |
| ENST00000415537.1:c.325_326del | ||
| ENST00000484378.1:n.346_347del | ||
| ENST00000487245.5:n.436_437del | ||
| ENST00000495835.1:n.516_517del | ||
| NM_002117.5:c.327_328del | NP_002108.4:p.Tyr109Ter | |
| NM_002117.6:c.327_328del MANE Select | NP_002108.4:p.Tyr109Ter |