Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611163_1611164del , CM000668.2:g.1611163_1611164del | GRCh38 |
| NC_000006.11:g.1611398_1611399del , CM000668.1:g.1611398_1611399del | GRCh37 |
| NC_000006.10:g.1556397_1556398del | NCBI36 |
| NG_009368.1:g.5718_5719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.718_719del MANE Select | ENSP00000493906.1:p.Leu240ValfsTer? | |
| ENST00000380874.3:c.718_719del | ENSP00000370256.2:p.Leu240ValfsTer? | |
| NM_001453.2:c.718_719del | NP_001444.2:p.Leu240ValfsTer? | |
| NM_001453.3:c.718_719del MANE Select | NP_001444.2:p.Leu240ValfsTer? |