Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535700_1535703delinsTCTC , CM000663.2:g.1535700_1535703delinsTCTC | GRCh38 |
| NC_000001.10:g.1471080_1471083delinsTCTC , CM000663.1:g.1471080_1471083delinsTCTC | GRCh37 |
| NC_000001.9:g.1460943_1460946delinsTCTC | NCBI36 |
| NG_041807.1:g.9658_9661delinsGAGA | |
| NG_053035.1:g.28558_28561delinsTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.259_262delinsGAGA MANE Select | ENSP00000368007.4:p.Glu87= | |
| ENST00000378733.8:c.259_262delinsGAGA | ENSP00000368007.4:p.Glu87= | |
| ENST00000425828.1:c.259_262delinsGAGA | ENSP00000400311.1:p.Glu87= | |
| NM_001114748.1:c.259_262delinsGAGA | NP_001108220.1:p.Glu87= | |
| NM_001114748.2:c.259_262delinsGAGA MANE Select | NP_001108220.1:p.Glu87= |