Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012988_25012993delinsTGGTACA , CM000685.2:g.25012988_25012993delinsTGGTACA | GRCh38 |
| NC_000023.10:g.25031105_25031110delinsTGGTACA , CM000685.1:g.25031105_25031110delinsTGGTACA | GRCh37 |
| NC_000023.9:g.24941026_24941031delinsTGGTACA | NCBI36 |
| NG_008281.1:g.7956_7961delinsTGTACCA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1002_1007delinsTGTACCA MANE Select | NP_620689.1:p.Phe335ValfsTer? |
| ENST00000379044.5:c.1002_1007delinsTGTACCA MANE Select | ENSP00000368332.4:p.Phe335ValfsTer? |
| NM_139058.2:c.1002_1007delinsTGTACCA | NP_620689.1:p.Phe335ValfsTer? |
| ENST00000379044.4:c.1002_1007delinsTGTACCA | ENSP00000368332.4:p.Phe335ValfsTer? |