Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149576172_149576173del , CM000664.2:g.149576172_149576173del | GRCh38 |
| NC_000002.11:g.150432686_150432687del , CM000664.1:g.150432686_150432687del | GRCh37 |
| NC_000002.10:g.150140932_150140933del | NCBI36 |
| NG_009189.1:g.16646_16647del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.478+266_478+267del MANE Select | NP_056517.1:n.478+266_478+267del |
| ENST00000303319.10:c.478+266_478+267del MANE Select | ENSP00000301920.5:n.478+266_478+267del |
| NM_015702.2:c.478+266_478+267del | NP_056517.1:n.478+266_478+267del |
| ENST00000303319.9:c.478+266_478+267del | ENSP00000301920.5:n.478+266_478+267del |
| ENST00000422782.2:c.478+266_478+267del | ENSP00000408331.2:n.478+266_478+267del |
| ENST00000428879.5:c.478+266_478+267del | ENSP00000389060.1:n.478+266_478+267del |