Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41262099_41262100delinsAC , CM000670.2:g.41262099_41262100delinsAC | GRCh38 |
| NC_000008.10:g.41119618_41119619delinsAC , CM000670.1:g.41119618_41119619delinsAC | GRCh37 |
| NC_000008.9:g.41238775_41238776delinsAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220772.8:c.*3067_*3068delinsGT MANE Select | ENSP00000220772.3:n.*3067_*3068delinsGT | |
| ENST00000220772.7:c.*3067_*3068delinsGT | ENSP00000220772.3:n.*3067_*3068delinsGT | |
| ENST00000379845.3:c.*3067_*3068delinsGT | ENSP00000369174.3:n.*3067_*3068delinsGT | |
| NM_003012.4:c.*3067_*3068delinsGT | NP_003003.3:n.*3067_*3068delinsGT | |
| NM_003012.5:c.*3067_*3068delinsGT MANE Select | NP_003003.3:n.*3067_*3068delinsGT |