Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401552_17401553insACCAAACACACCC , CM000663.2:g.17401552_17401553insACCAAACACACCC | GRCh38 |
| NC_000001.10:g.17728048_17728049insACCAAACACACCC , CM000663.1:g.17728048_17728049insACCAAACACACCC | GRCh37 |
| NC_000001.9:g.17600635_17600636insACCAAACACACCC | NCBI36 |
| NG_032943.1:g.34307_34308insACCAAACACACCC | |
| NG_032943.2:g.34307_34308insACCAAACACACCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*114_*115insACCAAACACACCC MANE Select | ENSP00000483125.1:n.*114_*115insACCAAACACACCC | |
| NM_207421.4:c.*114_*115insACCAAACACACCC MANE Select | NP_997304.3:n.*114_*115insACCAAACACACCC |