Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69245393_69245394delinsGT , CM000664.2:g.69245393_69245394delinsGT | GRCh38 |
| NC_000002.11:g.69472525_69472526delinsGT , CM000664.1:g.69472525_69472526delinsGT | GRCh37 |
| NC_000002.10:g.69326029_69326030delinsGT | NCBI36 |
| NG_012649.1:g.237250_237251delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032208.3:c.1603_1604delinsGT MANE Select | NP_115584.1:p.Ser535Val |
| ENST00000303714.9:c.1603_1604delinsGT MANE Select | ENSP00000301945.4:p.Ser535Val |
| NM_032208.2:c.1603_1604delinsGT | NP_115584.1:p.Ser535Val |
| ENST00000303714.8:c.1603_1604delinsGT | ENSP00000301945.4:p.Ser535Val |
| XR_939725.1:n.1750_1751delinsGT |