Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478484_81478487delinsAAAG , CM000670.2:g.81478484_81478487delinsAAAG | GRCh38 |
| NC_000008.10:g.82390719_82390722delinsAAAG , CM000670.1:g.82390719_82390722delinsAAAG | GRCh37 |
| NC_000008.9:g.82553274_82553277delinsAAAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*378_*381delinsCTTT MANE Select | ENSP00000256104.4:n.*378_*381delinsCTTT | |
| ENST00000256104.4:c.*378_*381delinsCTTT | ENSP00000256104.4:n.*378_*381delinsCTTT | |
| XR_001745980.1:n.514+16510_514+16513delinsAAAG | ||
| NM_001442.3:c.*378_*381delinsCTTT MANE Select | NP_001433.1:n.*378_*381delinsCTTT |