Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570103_149570104del , CM000664.2:g.149570103_149570104del | GRCh38 |
| NC_000002.11:g.150426617_150426618del , CM000664.1:g.150426617_150426618del | GRCh37 |
| NC_000002.10:g.150134863_150134864del | NCBI36 |
| NG_009189.1:g.22716_22717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.764_765del MANE Select | ENSP00000301920.5:p.Ser255CysfsTer2 | |
| ENST00000303319.9:c.764_765del | ENSP00000301920.5:p.Ser255CysfsTer2 | |
| ENST00000422782.2:c.866_867del | ENSP00000408331.2:p.Ser289CysfsTer2 | |
| ENST00000428879.5:c.764_765del | ENSP00000389060.1:p.Ser255CysfsTer2 | |
| NM_015702.2:c.764_765del | NP_056517.1:p.Ser255CysfsTer2 | |
| NM_015702.3:c.764_765del MANE Select | NP_056517.1:p.Ser255CysfsTer2 |