Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652060_52652061insAACACACCCAACA , CM000674.2:g.52652060_52652061insAACACACCCAACA | GRCh38 |
| NC_000012.11:g.53045844_53045845insAACACACCCAACA , CM000674.1:g.53045844_53045845insAACACACCCAACA | GRCh37 |
| NC_000012.10:g.51332111_51332112insAACACACCCAACA | NCBI36 |
| NG_008296.1:g.5117_5118insTTGGGTGTGTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.84_85insTTGGGTGTGTTTG MANE Select | ENSP00000310861.3:p.Val29LeufsTer? | |
| ENST00000309680.3:c.84_85insTTGGGTGTGTTTG | ENSP00000310861.3:p.Val29LeufsTer? | |
| NM_000423.2:c.84_85insTTGGGTGTGTTTG | NP_000414.2:p.Val29LeufsTer? | |
| NM_000423.3:c.84_85insTTGGGTGTGTTTG MANE Select | NP_000414.2:p.Val29LeufsTer? |