Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610851_1610863del , CM000668.2:g.1610851_1610863del | GRCh38 |
| NC_000006.11:g.1611086_1611098del , CM000668.1:g.1611086_1611098del | GRCh37 |
| NC_000006.10:g.1556085_1556097del | NCBI36 |
| NG_009368.1:g.5406_5418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.406_418del MANE Select | ENSP00000493906.1:p.Phe136ArgfsTer? | |
| ENST00000380874.3:c.406_418del | ENSP00000370256.2:p.Phe136ArgfsTer? | |
| NM_001453.2:c.406_418del | NP_001444.2:p.Phe136ArgfsTer? | |
| NM_001453.3:c.406_418del MANE Select | NP_001444.2:p.Phe136ArgfsTer? |