Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992618_150992619insGC , CM000669.2:g.150992618_150992619insGC | GRCh38 |
| NC_000007.13:g.150689706_150689707insGC , CM000669.1:g.150689706_150689707insGC | GRCh37 |
| NC_000007.12:g.150320639_150320640insGC | NCBI36 |
| NG_011992.1:g.6560_6561insGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-51-1135_-51-1134insGC MANE Select | ENSP00000297494.3:n.-51-1135_-51-1134insGC | |
| ENST00000297494.7:c.-51-1135_-51-1134insGC | ENSP00000297494.3:n.-51-1135_-51-1134insGC | |
| ENST00000461406.5:c.-149+1318_-149+1319insGC | ENSP00000417143.1:n.-149+1318_-149+1319insGC | |
| NM_000603.4:c.-51-1135_-51-1134insGC | NP_000594.2:n.-51-1135_-51-1134insGC | |
| NM_000603.5:c.-51-1135_-51-1134insGC MANE Select | NP_000594.2:n.-51-1135_-51-1134insGC |