Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775460_94775461delinsTG , CM000672.2:g.94775460_94775461delinsTG | GRCh38 |
| NC_000010.10:g.96535217_96535218delinsTG , CM000672.1:g.96535217_96535218delinsTG | GRCh37 |
| NC_000010.9:g.96525207_96525208delinsTG | NCBI36 |
| NG_008384.2:g.17755_17756delinsTG | |
| NG_008384.3:g.17780_17781delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.402_403delinsTG MANE Select | ENSP00000360372.3:p.Phe134= | |
| ENST00000645461.1:n.1455_1456delinsTG | ||
| ENST00000371321.7:c.402_403delinsTG | ENSP00000360372.3:p.Phe134= | |
| ENST00000464755.1:c.1165_1166delinsTG | ENSP00000483243.1:n.1165_1166delinsTG | |
| ENST00000480405.2:c.402_403delinsTG | ENSP00000483847.1:p.Phe134= | |
| NM_000769.2:c.402_403delinsTG | NP_000760.1:p.Phe134= | |
| NM_000769.4:c.402_403delinsTG MANE Select | NP_000760.1:p.Phe134= |