Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084757_108084758insG , CM000685.2:g.108084757_108084758insG | GRCh38 |
| NC_000023.10:g.107327987_107327988insG , CM000685.1:g.107327987_107327988insG | GRCh37 |
| NC_000023.9:g.107214643_107214644insG | NCBI36 |
| NG_012521.1:g.11861_11862insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217958.8:c.*216_*217insC MANE Select | ENSP00000217958.3:n.*216_*217insC | |
| ENST00000217958.7:c.*216_*217insC | ENSP00000217958.3:n.*216_*217insC | |
| ENST00000372296.5:c.*362_*363insC | ENSP00000361370.1:n.*362_*363insC | |
| NM_002814.3:c.*216_*217insC | NP_002805.1:n.*216_*217insC | |
| NM_170750.2:c.*362_*363insC | NP_736606.1:n.*362_*363insC | |
| NM_002814.4:c.*216_*217insC MANE Select | NP_002805.1:n.*216_*217insC | |
| NM_170750.3:c.*362_*363insC | NP_736606.1:n.*362_*363insC |