Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021377_94021378delinsCA , CM000663.2:g.94021377_94021378delinsCA | GRCh38 |
| NC_000001.10:g.94486933_94486934delinsCA , CM000663.1:g.94486933_94486934delinsCA | GRCh37 |
| NC_000001.9:g.94259521_94259522delinsCA | NCBI36 |
| NG_009073.1:g.104772_104773delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4880_4881delinsTG MANE Select | ENSP00000359245.3:p.Leu1627= | |
| ENST00000370225.3:c.4880_4881delinsTG | ENSP00000359245.3:p.Leu1627= | |
| ENST00000460514.1:n.374_375delinsTG | ||
| ENST00000536513.5:c.1256_1257delinsTG | ENSP00000439707.2:p.Leu419= | |
| NM_000350.2:c.4880_4881delinsTG | NP_000341.2:p.Leu1627= | |
| NM_000350.3:c.4880_4881delinsTG MANE Select | NP_000341.2:p.Leu1627= |