Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233266_55233267delinsCG , CM000667.2:g.55233266_55233267delinsCG | GRCh38 |
| NC_000005.9:g.54529094_54529095delinsCG , CM000667.1:g.54529094_54529095delinsCG | GRCh37 |
| NC_000005.8:g.54564851_54564852delinsCG | NCBI36 |
| NG_034201.1:g.5451_5452delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.257_258delinsCG MANE Select | ENSP00000282572.4:p.Pro86= | |
| ENST00000282572.4:c.257_258delinsCG | ENSP00000282572.4:p.Pro86= | |
| ENST00000501463.2:c.257_258delinsCG | ENSP00000422485.1:p.Pro86= | |
| NM_021147.4:c.257_258delinsCG | NP_066970.3:p.Pro86= | |
| NR_125346.1:n.451_452delinsCG | ||
| NR_125347.1:n.451_452delinsCG | ||
| NM_021147.5:c.257_258delinsCG MANE Select | NP_066970.3:p.Pro86= | |
| NR_125346.2:n.342_343delinsCG | ||
| NR_125347.2:n.342_343delinsCG |