Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736143_153736146delinsAAAG , CM000685.2:g.153736143_153736146delinsAAAG | GRCh38 |
| NC_000023.10:g.153001597_153001600delinsAAAG , CM000685.1:g.153001597_153001600delinsAAAG | GRCh37 |
| NC_000023.9:g.152654791_152654794delinsAAAG | NCBI36 |
| NG_009022.2:g.16276_16279delinsAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1113_1116delinsAAAG MANE Select | ENSP00000218104.3:p.Glu371= | |
| ENST00000218104.5:c.1113_1116delinsAAAG | ENSP00000218104.3:p.Glu371= | |
| ENST00000443684.2:n.116_119delinsAAAG | ||
| NM_000033.3:c.1113_1116delinsAAAG | NP_000024.2:p.Glu371= | |
| XR_938507.1:n.1529_1532delinsAAAG | ||
| XR_938507.2:n.1529_1532delinsAAAG | ||
| NM_000033.4:c.1113_1116delinsAAAG MANE Select | NP_000024.2:p.Glu371= |