Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046948_94046949delinsGC , CM000663.2:g.94046948_94046949delinsGC | GRCh38 |
| NC_000001.10:g.94512504_94512505delinsGC , CM000663.1:g.94512504_94512505delinsGC | GRCh37 |
| NC_000001.9:g.94285092_94285093delinsGC | NCBI36 |
| NG_009073.1:g.79201_79202delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2888_2889delinsGC MANE Select | ENSP00000359245.3:p.Gly963= | |
| ENST00000649773.1:c.2666_2667delinsGC | ENSP00000496882.1:p.Gly889= | |
| ENST00000370225.3:c.2888_2889delinsGC | ENSP00000359245.3:p.Gly963= | |
| ENST00000536513.5:c.-64-6860_-64-6859delinsGC | ENSP00000439707.2:n.-64-6860_-64-6859deli... | |
| NM_000350.2:c.2888_2889delinsGC | NP_000341.2:p.Gly963= | |
| NM_000350.3:c.2888_2889delinsGC MANE Select | NP_000341.2:p.Gly963= |