Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610700_1610701delinsTT , CM000668.2:g.1610700_1610701delinsTT | GRCh38 |
| NC_000006.11:g.1610935_1610936delinsTT , CM000668.1:g.1610935_1610936delinsTT | GRCh37 |
| NC_000006.10:g.1555934_1555935delinsTT | NCBI36 |
| NG_009368.1:g.5255_5256delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.255_256delinsTT MANE Select | NP_001444.2:p.Leu86Phe |
| ENST00000645831.2:c.255_256delinsTT MANE Select | ENSP00000493906.1:p.Leu86Phe |
| NM_001453.2:c.255_256delinsTT | NP_001444.2:p.Leu86Phe |
| ENST00000380874.3:c.255_256delinsTT | ENSP00000370256.2:p.Leu86Phe |