Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189179_20189180delinsTC , CM000675.2:g.20189179_20189180delinsTC | GRCh38 |
| NC_000013.10:g.20763318_20763319delinsTC , CM000675.1:g.20763318_20763319delinsTC | GRCh37 |
| NC_000013.9:g.19661318_19661319delinsTC | NCBI36 |
| NG_008358.1:g.8796_8797delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.402_403delinsGA | ENSP00000372295.1:p.Trp134= | |
| ENST00000382848.5:c.402_403delinsGA MANE Select | ENSP00000372299.4:p.Trp134= | |
| ENST00000382844.1:c.402_403delinsGA | ENSP00000372295.1:p.Trp134= | |
| ENST00000382848.4:c.402_403delinsGA | ENSP00000372299.4:p.Trp134= | |
| NM_004004.5:c.402_403delinsGA | NP_003995.2:p.Trp134= | |
| XM_011535049.1:c.402_403delinsGA | XP_011533351.1:p.Trp134= | |
| XM_011535049.2:c.402_403delinsGA | XP_011533351.1:p.Trp134= | |
| NM_004004.6:c.402_403delinsGA MANE Select | NP_003995.2:p.Trp134= |