Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671024_86671025delinsCT , CM000670.2:g.86671024_86671025delinsCT | GRCh38 |
| NC_000008.10:g.87683252_87683253delinsCT , CM000670.1:g.87683252_87683253delinsCT | GRCh37 |
| NC_000008.9:g.87752368_87752369delinsCT | NCBI36 |
| NG_016980.1:g.77651_77652delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.412_413delinsAG MANE Select | ENSP00000316605.5:p.Arg138= | |
| ENST00000680314.1:n.173_174delinsAG | ||
| ENST00000681746.1:c.412_413delinsAG | ENSP00000505959.1:p.Arg138= | |
| ENST00000320005.5:c.412_413delinsAG | ENSP00000316605.5:p.Arg138= | |
| NM_019098.4:c.412_413delinsAG | NP_061971.3:p.Arg138= | |
| XM_011517138.1:c.-3_-2delinsAG | XP_011515440.1:n.-3_-2delinsAG | |
| XM_011517138.2:c.-3_-2delinsAG | XP_011515440.1:n.-3_-2delinsAG | |
| NM_019098.5:c.412_413delinsAG MANE Select | NP_061971.3:p.Arg138= |