Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721870_42721871insAG , CM000668.2:g.42721870_42721871insAG | GRCh38 |
| NC_000006.11:g.42689608_42689609insAG , CM000668.1:g.42689608_42689609insAG | GRCh37 |
| NC_000006.10:g.42797586_42797587insAG | NCBI36 |
| NG_009176.1:g.5751_5752insTC | |
| NG_009176.2:g.5751_5752insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.465_466insTC MANE Select | ENSP00000230381.5:p.Ile156SerfsTer? | |
| ENST00000230381.6:c.465_466insTC | ENSP00000230381.5:p.Ile156SerfsTer? | |
| NM_000322.4:c.465_466insTC | NP_000313.2:p.Ile156SerfsTer? | |
| XR_427834.2:n.1120_1121insTC | ||
| XR_926295.1:n.1120_1121insTC | ||
| XR_427834.4:n.1170_1171insTC | ||
| XR_926295.3:n.1170_1171insTC | ||
| NM_000322.5:c.465_466insTC MANE Select | NP_000313.2:p.Ile156SerfsTer? |