Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039897_55039902dup , CM000663.2:g.55039897_55039902dup | GRCh38 |
| NC_000001.10:g.55505570_55505575dup , CM000663.1:g.55505570_55505575dup | GRCh37 |
| NC_000001.9:g.55278158_55278163dup | NCBI36 |
| NG_009061.1:g.5351_5356dup , LRG_275:g.5351_5356dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.60_65dup | ENSP00000501161.2:p.Leu22_Leu23insLeuLeu | |
| ENST00000710286.1:c.417_422dup | ENSP00000518176.1:p.Leu141_Leu142insLeuLeu | |
| ENST00000673726.1:c.60_65dup | ENSP00000501004.1:p.Leu22_Leu23insLeuLeu | |
| ENST00000302118.5:c.60_65dup MANE Select | ENSP00000303208.5:p.Leu22_Leu23insLeuLeu | |
| NM_174936.3:c.60_65dup , LRG_275t1:c.60_65dup | NP_777596.2:p.Leu22_Leu23insLeuLeu | |
| NM_174936.4:c.60_65dup MANE Select | NP_777596.2:p.Leu22_Leu23insLeuLeu |