Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721940_42721941delinsTG , CM000668.2:g.42721940_42721941delinsTG | GRCh38 |
| NC_000006.11:g.42689678_42689679delinsTG , CM000668.1:g.42689678_42689679delinsTG | GRCh37 |
| NC_000006.10:g.42797656_42797657delinsTG | NCBI36 |
| NG_009176.1:g.5680_5681delinsCA | |
| NG_009176.2:g.5680_5681delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.394_395delinsCA MANE Select | ENSP00000230381.5:p.Gln132= | |
| ENST00000230381.6:c.394_395delinsCA | ENSP00000230381.5:p.Gln132= | |
| NM_000322.4:c.394_395delinsCA | NP_000313.2:p.Gln132= | |
| XR_427834.2:n.1049_1050delinsCA | ||
| XR_926295.1:n.1049_1050delinsCA | ||
| XR_427834.4:n.1099_1100delinsCA | ||
| XR_926295.3:n.1099_1100delinsCA | ||
| NM_000322.5:c.394_395delinsCA MANE Select | NP_000313.2:p.Gln132= |