Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429079_23429087delinsGCCAGTGCC , CM000676.2:g.23429079_23429087delinsGCCAGTGCC | GRCh38 |
| NC_000014.8:g.23898288_23898296delinsGCCAGTGCC , CM000676.1:g.23898288_23898296delinsGCCAGTGCC | GRCh37 |
| NC_000014.7:g.22968128_22968136delinsGCCAGTGCC | NCBI36 |
| NG_007884.1:g.11575_11583delinsGGCACTGGC , LRG_384:g.11575_11583delinsGGCACTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1275_1283delinsGGCACTGGC MANE Select | ENSP00000347507.3:p.Gly425= | |
| ENST00000355349.3:c.1275_1283delinsGGCACTGGC | ENSP00000347507.3:p.Gly425= | |
| NM_000257.3:c.1275_1283delinsGGCACTGGC | NP_000248.2:p.Gly425= | |
| XR_245686.3:n.1381_1389delinsGGCACTGGC | ||
| XM_017021340.1:c.1275_1283delinsGGCACTGGC | XP_016876829.1:p.Gly425= | |
| NM_000257.4:c.1275_1283delinsGGCACTGGC MANE Select | NP_000248.2:p.Gly425= |