Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225473_5225474insGAGCT , CM000673.2:g.5225473_5225474insGAGCT | GRCh38 |
| NC_000011.9:g.5246703_5246704insGAGCT , CM000673.1:g.5246703_5246704insGAGCT | GRCh37 |
| NC_000011.8:g.5203279_5203280insGAGCT | NCBI36 |
| NG_000007.3:g.72142_72143insAGCTC | |
| NG_059281.1:g.6598_6599insAGCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*124_*125insAGCTC | ENSP00000494175.1:n.*124_*125insAGCTC | |
| ENST00000335295.4:c.*124_*125insAGCTC MANE Select | ENSP00000333994.3:n.*124_*125insAGCTC | |
| ENST00000633227.1:c.*384_*385insAGCTC | ENSP00000488004.1:n.*384_*385insAGCTC | |
| NM_000518.4:c.*124_*125insAGCTC | NP_000509.1:n.*124_*125insAGCTC | |
| NM_000518.5:c.*124_*125insAGCTC MANE Select | NP_000509.1:n.*124_*125insAGCTC |