Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72020931_72020932delinsCA , CM000674.2:g.72020931_72020932delinsCA | GRCh38 |
| NC_000012.11:g.72414711_72414712delinsCA , CM000674.1:g.72414711_72414712delinsCA | GRCh37 |
| NC_000012.10:g.70700978_70700979delinsCA | NCBI36 |
| NG_008279.1:g.87086_87087delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-1468_1069-1467delinsCA MANE Select | ENSP00000329093.3:n.1069-1468_1069-1467delinsCA | |
| ENST00000333850.3:c.1069-1468_1069-1467delinsCA | ENSP00000329093.3:n.1069-1468_1069-1467delinsCA | |
| NM_173353.3:c.1069-1468_1069-1467delinsCA | NP_775489.2:n.1069-1468_1069-1467delinsCA | |
| XM_011537899.1:c.475-1468_475-1467delinsCA | XP_011536201.1:n.475-1468_475-1467delinsCA | |
| NM_173353.4:c.1069-1468_1069-1467delinsCA MANE Select | NP_775489.2:n.1069-1468_1069-1467delinsCA |