Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781885del , CM000672.2:g.94781885del | GRCh38 |
| NC_000010.10:g.96541642del , CM000672.1:g.96541642del | GRCh37 |
| NC_000010.9:g.96531632del | NCBI36 |
| NG_008384.2:g.24180del | |
| NG_008384.3:g.24205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.707del MANE Select | ENSP00000360372.3:p.Asn236ThrfsTer13 | |
| ENST00000645461.1:n.1760del | ||
| ENST00000371321.7:c.707del | ENSP00000360372.3:p.Asn236ThrfsTer13 | |
| ENST00000464755.1:c.1470del | ENSP00000483243.1:n.1470del | |
| NM_000769.2:c.707del | NP_000760.1:p.Asn236ThrfsTer13 | |
| NM_000769.4:c.707del MANE Select | NP_000760.1:p.Asn236ThrfsTer13 |