Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433701_23433704delinsGCCC , CM000676.2:g.23433701_23433704delinsGCCC | GRCh38 |
| NC_000014.8:g.23902910_23902913delinsGCCC , CM000676.1:g.23902910_23902913delinsGCCC | GRCh37 |
| NC_000014.7:g.22972750_22972753delinsGCCC | NCBI36 |
| NG_007884.1:g.6958_6961delinsGGGC , LRG_384:g.6958_6961delinsGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.29_32delinsGGGC MANE Select | ENSP00000347507.3:p.Gly10= | |
| ENST00000355349.3:c.29_32delinsGGGC | ENSP00000347507.3:p.Gly10= | |
| NM_000257.3:c.29_32delinsGGGC | NP_000248.2:p.Gly10= | |
| XR_245686.3:n.135_138delinsGGGC | ||
| XM_017021340.1:c.29_32delinsGGGC | XP_016876829.1:p.Gly10= | |
| NM_000257.4:c.29_32delinsGGGC MANE Select | NP_000248.2:p.Gly10= |