Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722186_42722187delinsTC , CM000668.2:g.42722186_42722187delinsTC | GRCh38 |
| NC_000006.11:g.42689924_42689925delinsTC , CM000668.1:g.42689924_42689925delinsTC | GRCh37 |
| NC_000006.10:g.42797902_42797903delinsTC | NCBI36 |
| NG_009176.1:g.5434_5435delinsGA | |
| NG_009176.2:g.5434_5435delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.148_149delinsGA MANE Select | ENSP00000230381.5:p.Asp50= | |
| ENST00000230381.6:c.148_149delinsGA | ENSP00000230381.5:p.Asp50= | |
| NM_000322.4:c.148_149delinsGA | NP_000313.2:p.Asp50= | |
| XR_427834.2:n.803_804delinsGA | ||
| XR_926295.1:n.803_804delinsGA | ||
| XR_427834.4:n.853_854delinsGA | ||
| XR_926295.3:n.853_854delinsGA | ||
| NM_000322.5:c.148_149delinsGA MANE Select | NP_000313.2:p.Asp50= |