Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270031_31270032insG , CM000668.2:g.31270031_31270032insG | GRCh38 |
| NC_000006.11:g.31237808_31237809insG , CM000668.1:g.31237808_31237809insG | GRCh37 |
| NC_000006.10:g.31345787_31345788insG | NCBI36 |
| NG_029422.2:g.7100_7101insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.949_950insC MANE Select | ENSP00000365402.5:p.Val317AlafsTer18 | |
| ENST00000376228.9:c.949_950insC | ENSP00000365402.5:p.Val317AlafsTer18 | |
| ENST00000376237.8:c.*536_*537insC | ENSP00000365412.4:n.*536_*537insC | |
| ENST00000383329.7:c.949_950insC | ENSP00000372819.3:p.Val317AlafsTer18 | |
| ENST00000470363.5:n.267_268insC | ||
| ENST00000487245.5:n.1308_1309insC | ||
| NM_002117.5:c.949_950insC | NP_002108.4:p.Val317AlafsTer18 | |
| NM_002117.6:c.949_950insC MANE Select | NP_002108.4:p.Val317AlafsTer18 |