Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21042178_21042179insA , CM000680.2:g.21042178_21042179insA | GRCh38 |
| NC_000018.9:g.18622139_18622140insA , CM000680.1:g.18622139_18622140insA | GRCh37 |
| NC_000018.8:g.16876137_16876138insA | NCBI36 |
| NG_042178.2:g.74673_74674insT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005406.3:c.877_878insT MANE Select | NP_005397.1:p.His293LeufsTer2 |
| ENST00000399799.3:c.877_878insT MANE Select | ENSP00000382697.1:p.His293LeufsTer2 |
| NM_005406.2:c.877_878insT | NP_005397.1:p.His293LeufsTer2 |
| ENST00000399799.2:c.877_878insT | ENSP00000382697.1:p.His293LeufsTer2 |
| ENST00000635540.1:c.877_878insT | ENSP00000489185.1:p.His293LeufsTer2 |
| ENST00000635540.2:c.877_878insT | ENSP00000489185.1:p.His293LeufsTer2 |
| XM_011526136.1:c.877_878insT | XP_011524438.1:p.His293LeufsTer2 |