Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5971627del , CM000674.2:g.5971627del | GRCh38 |
| NC_000012.11:g.6080793del , CM000674.1:g.6080793del | GRCh37 |
| NC_000012.10:g.5951054del | NCBI36 |
| NG_009072.1:g.158049del | |
| NG_009072.2:g.158049del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.7525del MANE Select | NP_000543.3:p.Asp2509ThrfsTer28 |
| ENST00000261405.10:c.7525del MANE Select | ENSP00000261405.5:p.Asp2509ThrfsTer28 |
| NM_000552.3:c.7525del | NP_000543.2:p.Asp2509ThrfsTer28 |
| NM_000552.4:c.7525del | NP_000543.2:p.Asp2509ThrfsTer28 |
| ENST00000261405.9:c.7525del | ENSP00000261405.5:p.Asp2509ThrfsTer28 |