Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610892_1610893delinsCA , CM000668.2:g.1610892_1610893delinsCA | GRCh38 |
| NC_000006.11:g.1611127_1611128delinsCA , CM000668.1:g.1611127_1611128delinsCA | GRCh37 |
| NC_000006.10:g.1556126_1556127delinsCA | NCBI36 |
| NG_009368.1:g.5447_5448delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.447_448delinsCA MANE Select | ENSP00000493906.1:p.Gly149= | |
| ENST00000380874.3:c.447_448delinsCA | ENSP00000370256.2:p.Gly149= | |
| NM_001453.2:c.447_448delinsCA | NP_001444.2:p.Gly149= | |
| NM_001453.3:c.447_448delinsCA MANE Select | NP_001444.2:p.Gly149= |