Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039901_55039906dup , CM000663.2:g.55039901_55039906dup | GRCh38 |
| NC_000001.10:g.55505574_55505579dup , CM000663.1:g.55505574_55505579dup | GRCh37 |
| NC_000001.9:g.55278162_55278167dup | NCBI36 |
| NG_009061.1:g.5355_5360dup , LRG_275:g.5355_5360dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.64_69dup | ENSP00000501161.2:p.Leu23_Gly24insLeuLeu | |
| ENST00000710286.1:c.421_426dup | ENSP00000518176.1:p.Leu142_Gly143insLeuLeu | |
| ENST00000673726.1:c.64_69dup | ENSP00000501004.1:p.Leu23_Gly24insLeuLeu | |
| ENST00000302118.5:c.64_69dup MANE Select | ENSP00000303208.5:p.Leu23_Gly24insLeuLeu | |
| NM_174936.3:c.64_69dup , LRG_275t1:c.64_69dup | NP_777596.2:p.Leu23_Gly24insLeuLeu | |
| NM_174936.4:c.64_69dup MANE Select | NP_777596.2:p.Leu23_Gly24insLeuLeu |