Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227061_5227062delinsGA , CM000673.2:g.5227061_5227062delinsGA | GRCh38 |
| NC_000011.9:g.5248291_5248292delinsGA , CM000673.1:g.5248291_5248292delinsGA | GRCh37 |
| NC_000011.8:g.5204867_5204868delinsGA | NCBI36 |
| NG_000007.3:g.70554_70555delinsTC | |
| NG_059281.1:g.5010_5011delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-41_-40delinsTC | ENSP00000494175.1:n.-41_-40delinsTC | |
| ENST00000335295.4:c.-41_-40delinsTC MANE Select | ENSP00000333994.3:n.-41_-40delinsTC | |
| ENST00000380315.2:c.-18-23_-18-22delinsTC | ENSP00000369671.2:n.-18-23_-18-22delinsTC | |
| ENST00000485743.1:n.11_12delinsTC | ||
| ENST00000633227.1:c.-41_-40delinsTC | ENSP00000488004.1:n.-41_-40delinsTC | |
| NM_000518.4:c.-41_-40delinsTC | NP_000509.1:n.-41_-40delinsTC | |
| NM_000518.5:c.-41_-40delinsTC MANE Select | NP_000509.1:n.-41_-40delinsTC |