Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176711631_176711632insAA , CM000666.2:g.176711631_176711632insAA | GRCh38 |
| NC_000004.11:g.177632785_177632786insAA , CM000666.1:g.177632785_177632786insAA | GRCh37 |
| NC_000004.10:g.177869779_177869780insAA | NCBI36 |
| NG_034216.1:g.86114_86115insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.571_572insTT MANE Select | ENSP00000480043.1:p.Pro191LeufsTer10 | |
| ENST00000507638.1:n.270_271insTT | ||
| ENST00000618562.1:c.571_572insTT | ENSP00000480043.1:p.Pro191LeufsTer10 | |
| NM_005429.4:c.571_572insTT | NP_005420.1:p.Pro191LeufsTer10 | |
| NM_005429.5:c.571_572insTT MANE Select | NP_005420.1:p.Pro191LeufsTer10 |