Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897241_46897245delinsAAGGT , CM000675.2:g.46897241_46897245delinsAAGGT | GRCh38 |
| NC_000013.10:g.47471376_47471380delinsAAGGT , CM000675.1:g.47471376_47471380delinsAAGGT | GRCh37 |
| NC_000013.9:g.46369377_46369381delinsAAGGT | NCBI36 |
| NG_013011.1:g.4790_4794delinsACCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001378924.1:c.-329+707_-329+711delinsACCTT | NP_001365853.1:n.-329+707_-329+711delinsA... |