Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146109_38146110insACGA , CM000670.2:g.38146109_38146110insACGA | GRCh38 |
| NC_000008.10:g.38003627_38003628insACGA , CM000670.1:g.38003627_38003628insACGA | GRCh37 |
| NC_000008.9:g.38122784_38122785insACGA | NCBI36 |
| NG_011827.1:g.9973_9974insTCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.503_504insTCGT MANE Select | ENSP00000276449.3:p.Glu169ArgfsTer16 | |
| ENST00000276449.8:c.503_504insTCGT | ENSP00000276449.3:p.Glu169ArgfsTer16 | |
| ENST00000520114.1:n.990_991insTCGT | ||
| ENST00000522050.1:c.439_440insTCGT | ||
| NM_000349.2:c.503_504insTCGT | NP_000340.2:p.Glu169ArgfsTer16 | |
| XM_006716392.1:c.503_504insTCGT | XP_006716455.1:p.Glu169ArgfsTer16 | |
| NM_000349.3:c.503_504insTCGT MANE Select | NP_000340.2:p.Glu169ArgfsTer16 |