Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652139_171652140insA , CM000663.2:g.171652139_171652140insA | GRCh38 |
| NC_000001.10:g.171621279_171621280insA , CM000663.1:g.171621279_171621280insA | GRCh37 |
| NC_000001.9:g.169887902_169887903insA | NCBI36 |
| NG_008859.1:g.5494_5495insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.472_473insT MANE Select | ENSP00000037502.5:p.Arg158LeufsTer7 | |
| ENST00000638471.1:c.130+342_130+343insT | ENSP00000491206.1:n.130+342_130+343insT | |
| ENST00000037502.10:c.472_473insT | ENSP00000037502.5:p.Arg158LeufsTer7 | |
| ENST00000614688.1:c.472_473insT | ENSP00000478680.1:p.Arg158LeufsTer7 | |
| NM_000261.1:c.472_473insT | NP_000252.1:p.Arg158LeufsTer7 | |
| NM_000261.2:c.472_473insT MANE Select | NP_000252.1:p.Arg158LeufsTer7 |