Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832862_116832863delinsCA , CM000673.2:g.116832862_116832863delinsCA | GRCh38 |
| NC_000011.9:g.116703578_116703579delinsCA , CM000673.1:g.116703578_116703579delinsCA | GRCh37 |
| NC_000011.8:g.116208788_116208789delinsCA | NCBI36 |
| NG_008949.1:g.7955_7956delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.278_279delinsCA MANE Select | ENSP00000227667.2:p.Pro93= | |
| ENST00000227667.7:c.278_279delinsCA | ENSP00000227667.2:p.Pro93= | |
| ENST00000375345.3:c.332_333delinsCA | ENSP00000364494.1:p.Pro111= | |
| ENST00000630701.1:c.332_333delinsCA | ENSP00000486182.1:p.Pro111= | |
| NM_000040.1:c.278_279delinsCA | NP_000031.1:p.Pro93= | |
| NM_000040.2:c.278_279delinsCA | NP_000031.1:p.Pro93= | |
| NM_000040.3:c.278_279delinsCA MANE Select | NP_000031.1:p.Pro93= |