Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433678_23433679delinsAC , CM000676.2:g.23433678_23433679delinsAC | GRCh38 |
| NC_000014.8:g.23902887_23902888delinsAC , CM000676.1:g.23902887_23902888delinsAC | GRCh37 |
| NC_000014.7:g.22972727_22972728delinsAC | NCBI36 |
| NG_007884.1:g.6983_6984delinsGT , LRG_384:g.6983_6984delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.54_55delinsGT MANE Select | ENSP00000347507.3:p.Lys18= | |
| ENST00000355349.3:c.54_55delinsGT | ENSP00000347507.3:p.Lys18= | |
| NM_000257.3:c.54_55delinsGT | NP_000248.2:p.Lys18= | |
| XR_245686.3:n.160_161delinsGT | ||
| XM_017021340.1:c.54_55delinsGT | XP_016876829.1:p.Lys18= | |
| NM_000257.4:c.54_55delinsGT MANE Select | NP_000248.2:p.Lys18= |