Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220863_32220865delinsCCC , CM000668.2:g.32220863_32220865delinsCCC | GRCh38 |
| NC_000006.11:g.32188640_32188642delinsCCC , CM000668.1:g.32188640_32188642delinsCCC | GRCh37 |
| NC_000006.10:g.32296618_32296620delinsCCC | NCBI36 |
| NG_028190.1:g.8203_8205delinsGGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.813_815delinsGGG MANE Select | NP_004548.3:p.Asp272Gly |
| ENST00000375023.3:c.813_815delinsGGG MANE Select | ENSP00000364163.3:p.Asp272Gly |
| NM_004557.3:c.813_815delinsGGG | NP_004548.3:p.Asp272Gly |
| NR_134949.1:n.952_954delinsGGG | |
| NR_134949.2:n.952_954delinsGGG | |
| NR_134950.1:n.952_954delinsGGG | |
| NR_134950.2:n.952_954delinsGGG | |
| ENST00000473562.1:n.942_944delinsGGG |