Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523498_232523499delinsAC , CM000664.2:g.232523498_232523499delinsAC | GRCh38 |
| NC_000002.11:g.233388208_233388209delinsAC , CM000664.1:g.233388208_233388209delinsAC | GRCh37 |
| NC_000002.10:g.233096452_233096453delinsAC | NCBI36 |
| NG_008028.1:g.2287_2288delinsAC | |
| NG_031969.1:g.8036_8037delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.932_933delinsAC MANE Select | ENSP00000479745.1:p.Asp311= | |
| ENST00000449534.6:c.932_933delinsAC | ENSP00000473410.1:p.Asp311= | |
| ENST00000617714.1:c.932_933delinsAC | ENSP00000479745.1:p.Asp311= | |
| NM_001195129.1:c.932_933delinsAC | NP_001182058.1:p.Asp311= | |
| NM_001195129.2:c.932_933delinsAC MANE Select | NP_001182058.1:p.Asp311= | |
| NM_001369848.1:c.932_933delinsAC | NP_001356777.1:p.Asp311= |