Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216205606_216205607delinsAC , CM000664.2:g.216205606_216205607delinsAC | GRCh38 |
| NC_000002.11:g.217070329_217070330delinsAC , CM000664.1:g.217070329_217070330delinsAC | GRCh37 |
| NC_000002.10:g.216778574_216778575delinsAC | NCBI36 |
| NG_029780.1:g.101310_101311delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*404_*405delinsAC MANE Select | ENSP00000375977.2:n.*404_*405delinsAC | |
| ENST00000392132.6:c.*404_*405delinsAC | ENSP00000375977.2:n.*404_*405delinsAC | |
| ENST00000392133.7:c.*404_*405delinsAC | ENSP00000375978.3:n.*404_*405delinsAC | |
| NM_021141.3:c.*404_*405delinsAC | NP_066964.1:n.*404_*405delinsAC | |
| NM_021141.4:c.*404_*405delinsAC MANE Select | NP_066964.1:n.*404_*405delinsAC |