Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225616_5225618del , CM000673.2:g.5225616_5225618del | GRCh38 |
| NC_000011.9:g.5246846_5246848del , CM000673.1:g.5246846_5246848del | GRCh37 |
| NC_000011.8:g.5203422_5203424del | NCBI36 |
| NG_000007.3:g.71998_72000del | |
| NG_059281.1:g.6454_6456del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.424_426del | ENSP00000494175.1:p.Leu142del | |
| ENST00000335295.4:c.424_426del MANE Select | ENSP00000333994.3:p.Leu142del | |
| ENST00000633227.1:c.*240_*242del | ENSP00000488004.1:n.*240_*242del | |
| NM_000518.4:c.424_426del | NP_000509.1:p.Leu142del | |
| NM_000518.5:c.424_426del MANE Select | NP_000509.1:p.Leu142del |