Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005875_75005879del , CM000676.2:g.75005875_75005879del | GRCh38 |
| NC_000014.8:g.75472578_75472582del , CM000676.1:g.75472578_75472582del | GRCh37 |
| NC_000014.7:g.74542331_74542335del | NCBI36 |
| NG_013333.1:g.7967_7971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.607_611del MANE Select | ENSP00000266126.5:p.Met203CysfsTer9 | |
| ENST00000266126.9:c.607_611del | ENSP00000266126.5:p.Met203CysfsTer9 | |
| ENST00000553401.5:c.605_609del | ENSP00000451681.1:n.605_609del | |
| ENST00000556028.5:c.598-22_598-18del | ENSP00000452311.1:n.598-22_598-18del | |
| NM_014239.3:c.607_611del | NP_055054.1:p.Met203CysfsTer9 | |
| NM_014239.4:c.607_611del MANE Select | NP_055054.1:p.Met203CysfsTer9 |