Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149575387_149575398del , CM000664.2:g.149575387_149575398del | GRCh38 |
| NC_000002.11:g.150431901_150431912del , CM000664.1:g.150431901_150431912del | GRCh37 |
| NC_000002.10:g.150140147_150140158del | NCBI36 |
| NG_009189.1:g.17428_17439del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.609+322_609+333del MANE Select | NP_056517.1:n.609+322_609+333del |
| ENST00000303319.10:c.609+322_609+333del MANE Select | ENSP00000301920.5:n.609+322_609+333del |
| NM_015702.2:c.609+322_609+333del | NP_056517.1:n.609+322_609+333del |
| ENST00000303319.9:c.609+322_609+333del | ENSP00000301920.5:n.609+322_609+333del |
| ENST00000422782.2:c.609+322_609+333del | ENSP00000408331.2:n.609+322_609+333del |
| ENST00000428879.5:c.609+322_609+333del | ENSP00000389060.1:n.609+322_609+333del |