Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438310_35438312delinsCCA , CM000682.2:g.35438310_35438312delinsCCA | GRCh38 |
| NC_000020.10:g.34026090_34026092delinsCCA , CM000682.1:g.34026090_34026092delinsCCA | GRCh37 |
| NC_000020.9:g.33489504_33489506delinsCCA | NCBI36 |
| NG_008076.2:g.4908_4910delinsTGG | |
| NG_008076.3:g.21435_21437delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-143_-241-141delinsTGG | ENSP00000363492.1:n.-241-143_-241-141delinsTGG | |
| XM_011529075.1:c.-241-143_-241-141delinsTGG | XP_011527377.1:n.-241-143_-241-141delinsTGG | |
| XM_011529076.1:c.-241-143_-241-141delinsTGG | XP_011527378.1:n.-241-143_-241-141delinsTGG | |
| NM_001319138.1:c.-241-143_-241-141delinsTGG | NP_001306067.1:n.-241-143_-241-141delinsTGG | |
| NM_001319138.2:c.-241-143_-241-141delinsTGG | NP_001306067.1:n.-241-143_-241-141delinsTGG |