Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178397_24178399del , CM000668.2:g.24178397_24178399del | GRCh38 |
| NC_000006.11:g.24178625_24178627del , CM000668.1:g.24178625_24178627del | GRCh37 |
| NC_000006.10:g.24286604_24286606del | NCBI36 |
| NG_012829.1:g.184658_184660del | |
| NG_012829.2:g.209898_209900del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1261_1263del MANE Select | ENSP00000367715.3:p.Asn421del | |
| ENST00000378450.6:c.520_522del | ENSP00000367711.3:p.Asn174del | |
| ENST00000378454.7:c.1261_1263del | ENSP00000367715.3:p.Asn421del | |
| NM_001195610.1:c.1261_1263del | NP_001182539.1:p.Asn421del | |
| NM_016356.4:c.1261_1263del | NP_057440.2:p.Asn421del | |
| NM_016356.5:c.1261_1263del MANE Select | NP_057440.2:p.Asn421del | |
| NM_001195610.2:c.1261_1263del | NP_001182539.1:p.Asn421del |