Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010282_25010283delinsTC , CM000685.2:g.25010282_25010283delinsTC | GRCh38 |
| NC_000023.10:g.25028399_25028400delinsTC , CM000685.1:g.25028399_25028400delinsTC | GRCh37 |
| NC_000023.9:g.24938320_24938321delinsTC | NCBI36 |
| NG_008281.1:g.10666_10667delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1096_1097delinsGA MANE Select | ENSP00000368332.4:p.Asp366= | |
| ENST00000379044.4:c.1096_1097delinsGA | ENSP00000368332.4:p.Asp366= | |
| NM_139058.2:c.1096_1097delinsGA | NP_620689.1:p.Asp366= | |
| NM_139058.3:c.1096_1097delinsGA MANE Select | NP_620689.1:p.Asp366= |