Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111375_118111379delinsGAGAA , CM000670.2:g.118111375_118111379delinsGAGAA | GRCh38 |
| NC_000008.10:g.119123614_119123618delinsGAGAA , CM000670.1:g.119123614_119123618delinsGAGAA | GRCh37 |
| NC_000008.9:g.119192795_119192799delinsGAGAA | NCBI36 |
| NG_007455.2:g.5441_5445delinsTTCTC , LRG_493:g.5441_5445delinsTTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-333_-329delinsTTCTC MANE Select | ENSP00000367446.3:n.-333_-329delinsTTCTC | |
| ENST00000378204.6:c.-333_-329delinsTTCTC | ENSP00000367446.2:n.-333_-329delinsTTCTC | |
| NM_000127.2:c.-333_-329delinsTTCTC , LRG_493t1:c.-333_-329delinsTTCTC | NP_000118.2:n.-333_-329delinsTTCTC | |
| NM_000127.3:c.-333_-329delinsTTCTC MANE Select | NP_000118.2:n.-333_-329delinsTTCTC |