Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001931_94001936delinsT , CM000663.2:g.94001931_94001936delinsT | GRCh38 |
| NC_000001.10:g.94467487_94467492delinsT , CM000663.1:g.94467487_94467492delinsT | GRCh37 |
| NC_000001.9:g.94240075_94240080delinsT | NCBI36 |
| NG_009073.1:g.124214_124219delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6204_6209delinsA MANE Select | ENSP00000359245.3:p.Gly2069ValfsTer26 | |
| ENST00000370225.3:c.6204_6209delinsA | ENSP00000359245.3:p.Gly2069ValfsTer26 | |
| ENST00000465352.1:n.620_625delinsA | ||
| ENST00000536513.5:c.2580_2585delinsA | ENSP00000439707.2:p.Gly861ValfsTer26 | |
| NM_000350.2:c.6204_6209delinsA | NP_000341.2:p.Gly2069ValfsTer26 | |
| NM_000350.3:c.6204_6209delinsA MANE Select | NP_000341.2:p.Gly2069ValfsTer26 |