Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888045_20888046delinsCA , CM000684.2:g.20888045_20888046delinsCA | GRCh38 |
| NC_000022.10:g.21242333_21242334delinsCA , CM000684.1:g.21242333_21242334delinsCA | GRCh37 |
| NC_000022.9:g.19572333_19572334delinsCA | NCBI36 |
| NG_012152.1:g.34042_34043delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*209_*210delinsCA MANE Select | ENSP00000215730.6:n.*209_*210delinsCA | |
| ENST00000215730.11:c.*209_*210delinsCA | ENSP00000215730.6:n.*209_*210delinsCA | |
| NM_004782.3:c.*209_*210delinsCA | NP_004773.1:n.*209_*210delinsCA | |
| NM_004782.4:c.*209_*210delinsCA MANE Select | NP_004773.1:n.*209_*210delinsCA |