Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740633_153740634delinsAC , CM000685.2:g.153740633_153740634delinsAC | GRCh38 |
| NC_000023.10:g.153006087_153006088delinsAC , CM000685.1:g.153006087_153006088delinsAC | GRCh37 |
| NC_000023.9:g.152659281_152659282delinsAC | NCBI36 |
| NG_009022.2:g.20766_20767delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1694_1695delinsAC MANE Select | ENSP00000218104.3:p.Asp565= | |
| ENST00000218104.5:c.1694_1695delinsAC | ENSP00000218104.3:p.Asp565= | |
| NM_000033.3:c.1694_1695delinsAC | NP_000024.2:p.Asp565= | |
| XR_938507.1:n.2166_2167delinsAC | ||
| XR_938507.2:n.2166_2167delinsAC | ||
| NM_000033.4:c.1694_1695delinsAC MANE Select | NP_000024.2:p.Asp565= |