Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988928_94988929insATA , CM000672.2:g.94988928_94988929insATA | GRCh38 |
| NC_000010.10:g.96748685_96748686insATA , CM000672.1:g.96748685_96748686insATA | GRCh37 |
| NC_000010.9:g.96738675_96738676insATA | NCBI36 |
| NG_008385.1:g.55271_55272insATA | |
| NG_008385.2:g.55771_55772insATA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1373_1374insATA MANE Select | ENSP00000260682.6:p.Leu459Ter | |
| ENST00000643112.1:c.*382_*383insATA | ENSP00000496202.1:n.*382_*383insATA | |
| ENST00000260682.6:c.1373_1374insATA | ENSP00000260682.6:p.Leu459Ter | |
| NM_000771.3:c.1373_1374insATA | NP_000762.2:p.Leu459Ter | |
| NM_000771.4:c.1373_1374insATA MANE Select | NP_000762.2:p.Leu459Ter |