Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225609_5225617del , CM000673.2:g.5225609_5225617del | GRCh38 |
| NC_000011.9:g.5246839_5246847del , CM000673.1:g.5246839_5246847del | GRCh37 |
| NC_000011.8:g.5203415_5203423del | NCBI36 |
| NG_000007.3:g.71999_72007del | |
| NG_059281.1:g.6455_6463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.425_433del | ENSP00000494175.1:p.Leu142_Lys145delinsGln | |
| ENST00000335295.4:c.425_433del MANE Select | ENSP00000333994.3:p.Leu142_Lys145delinsGln | |
| ENST00000633227.1:c.*241_*249del | ENSP00000488004.1:n.*241_*249del | |
| NM_000518.4:c.425_433del | NP_000509.1:p.Leu142_Lys145delinsGln | |
| NM_000518.5:c.425_433del MANE Select | NP_000509.1:p.Leu142_Lys145delinsGln |