Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625056_22625057delinsCA , CM000673.2:g.22625056_22625057delinsCA | GRCh38 |
| NC_000011.9:g.22646602_22646603delinsCA , CM000673.1:g.22646602_22646603delinsCA | GRCh37 |
| NC_000011.8:g.22603178_22603179delinsCA | NCBI36 |
| NG_007425.1:g.5785_5786delinsTG , LRG_527:g.5785_5786delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.754_755delinsTG MANE Select | ENSP00000330875.3:p.Cys252= | |
| ENST00000327470.4:c.754_755delinsTG | ENSP00000330875.3:p.Cys252= | |
| NM_022725.3:c.754_755delinsTG , LRG_527t1:c.754_755delinsTG | NP_073562.1:p.Cys252= | |
| NM_022725.4:c.754_755delinsTG MANE Select | NP_073562.1:p.Cys252= |