Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214414669_214414670insAA , CM000663.2:g.214414669_214414670insAA | GRCh38 |
| NC_000001.10:g.214588012_214588013insAA , CM000663.1:g.214588012_214588013insAA | GRCh37 |
| NC_000001.9:g.212654635_212654636insAA | NCBI36 |
| NG_028036.1:g.142012_142013insTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005401.5:c.401_402insTT MANE Select | NP_005392.2:p.Leu135TyrfsTer5 |
| ENST00000366956.10:c.401_402insTT MANE Select | ENSP00000355923.4:p.Leu135TyrfsTer5 |
| NM_005401.4:c.401_402insTT | NP_005392.2:p.Leu135TyrfsTer5 |
| ENST00000366956.9:c.401_402insTT | ENSP00000355923.4:p.Leu135TyrfsTer5 |
| ENST00000543945.5:c.401_402insTT | ENSP00000443330.1:p.Leu135TyrfsTer5 |
| XM_017001941.1:c.401_402insTT | XP_016857430.1:p.Leu135TyrfsTer5 |
| XM_024448759.1:c.401_402insTT | XP_024304527.1:p.Leu135TyrfsTer5 |
| XR_247032.3:n.975_976insTT |