Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125318_55125320delinsGCC , CM000666.2:g.55125318_55125320delinsGCC | GRCh38 |
| NC_000004.11:g.55991485_55991487delinsGCC , CM000666.1:g.55991485_55991487delinsGCC | GRCh37 |
| NC_000004.10:g.55686242_55686244delinsGCC | NCBI36 |
| NG_012004.1:g.5276_5278delinsGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-27_-25delinsGGC MANE Select | ENSP00000263923.4:n.-27_-25delinsGGC | |
| ENST00000263923.4:c.-27_-25delinsGGC | ENSP00000263923.4:n.-27_-25delinsGGC | |
| NM_002253.2:c.-27_-25delinsGGC | NP_002244.1:n.-27_-25delinsGGC | |
| NM_002253.3:c.-27_-25delinsGGC | NP_002244.1:n.-27_-25delinsGGC | |
| NM_002253.4:c.-27_-25delinsGGC MANE Select | NP_002244.1:n.-27_-25delinsGGC |