Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955895_19955897delinsACT , CM000670.2:g.19955895_19955897delinsACT | GRCh38 |
| NC_000008.10:g.19813406_19813408delinsACT , CM000670.1:g.19813406_19813408delinsACT | GRCh37 |
| NC_000008.9:g.19857686_19857688delinsACT | NCBI36 |
| NG_008855.1:g.21825_21827delinsACT | |
| NG_008855.2:g.59179_59181delinsACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.830_832delinsACT MANE Select | ENSP00000497642.1:p.Asp277= | |
| ENST00000311322.8:c.830_832delinsACT | ENSP00000309757.6:p.Asp277= | |
| NM_000237.2:c.830_832delinsACT | NP_000228.1:p.Asp277= | |
| NM_000237.3:c.830_832delinsACT MANE Select | NP_000228.1:p.Asp277= |