Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611111_1611126del , CM000668.2:g.1611111_1611126del | GRCh38 |
| NC_000006.11:g.1611346_1611361del , CM000668.1:g.1611346_1611361del | GRCh37 |
| NC_000006.10:g.1556345_1556360del | NCBI36 |
| NG_009368.1:g.5666_5681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.666_681del MANE Select | ENSP00000493906.1:p.Ile223ProfsTer? | |
| ENST00000380874.3:c.666_681del | ENSP00000370256.2:p.Ile223ProfsTer? | |
| NM_001453.2:c.666_681del | NP_001444.2:p.Ile223ProfsTer? | |
| NM_001453.3:c.666_681del MANE Select | NP_001444.2:p.Ile223ProfsTer? |