Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039943_55039948dup , CM000663.2:g.55039943_55039948dup | GRCh38 |
| NC_000001.10:g.55505616_55505621dup , CM000663.1:g.55505616_55505621dup | GRCh37 |
| NC_000001.9:g.55278204_55278209dup | NCBI36 |
| NG_009061.1:g.5397_5402dup , LRG_275:g.5397_5402dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.106_111dup | ENSP00000501161.2:p.Asp37_Tyr38insGlyAsp | |
| ENST00000710286.1:c.463_468dup | ENSP00000518176.1:p.Asp156_Tyr157insGlyAsp | |
| ENST00000673726.1:c.106_111dup | ENSP00000501004.1:p.Asp37_Tyr38insGlyAsp | |
| ENST00000302118.5:c.106_111dup MANE Select | ENSP00000303208.5:p.Asp37_Tyr38insGlyAsp | |
| NM_174936.3:c.106_111dup , LRG_275t1:c.106_111dup | NP_777596.2:p.Asp37_Tyr38insGlyAsp | |
| NM_174936.4:c.106_111dup MANE Select | NP_777596.2:p.Asp37_Tyr38insGlyAsp |