Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72020877_72020878delinsTC , CM000674.2:g.72020877_72020878delinsTC | GRCh38 |
| NC_000012.11:g.72414657_72414658delinsTC , CM000674.1:g.72414657_72414658delinsTC | GRCh37 |
| NC_000012.10:g.70700924_70700925delinsTC | NCBI36 |
| NG_008279.1:g.87032_87033delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-1522_1069-1521delinsTC MANE Select | ENSP00000329093.3:n.1069-1522_1069-1521delinsTC | |
| ENST00000333850.3:c.1069-1522_1069-1521delinsTC | ENSP00000329093.3:n.1069-1522_1069-1521delinsTC | |
| NM_173353.3:c.1069-1522_1069-1521delinsTC | NP_775489.2:n.1069-1522_1069-1521delinsTC | |
| XM_011537899.1:c.475-1522_475-1521delinsTC | XP_011536201.1:n.475-1522_475-1521delinsTC | |
| NM_173353.4:c.1069-1522_1069-1521delinsTC MANE Select | NP_775489.2:n.1069-1522_1069-1521delinsTC |