Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832799_116832800delinsAC , CM000673.2:g.116832799_116832800delinsAC | GRCh38 |
| NC_000011.9:g.116703515_116703516delinsAC , CM000673.1:g.116703515_116703516delinsAC | GRCh37 |
| NC_000011.8:g.116208725_116208726delinsAC | NCBI36 |
| NG_008949.1:g.7892_7893delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.215_216delinsAC MANE Select | ENSP00000227667.2:p.Asp72= | |
| ENST00000227667.7:c.215_216delinsAC | ENSP00000227667.2:p.Asp72= | |
| ENST00000375345.3:c.269_270delinsAC | ENSP00000364494.1:p.Asp90= | |
| ENST00000630701.1:c.269_270delinsAC | ENSP00000486182.1:p.Asp90= | |
| NM_000040.1:c.215_216delinsAC | NP_000031.1:p.Asp72= | |
| NM_000040.2:c.215_216delinsAC | NP_000031.1:p.Asp72= | |
| NM_000040.3:c.215_216delinsAC MANE Select | NP_000031.1:p.Asp72= |