Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767414_28767415insAAAA , CM000676.2:g.28767414_28767415insAAAA | GRCh38 |
| NC_000014.8:g.29236620_29236621insAAAA , CM000676.1:g.29236620_29236621insAAAA | GRCh37 |
| NC_000014.7:g.28306371_28306372insAAAA | NCBI36 |
| NG_009367.1:g.5334_5335insAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.135_136insAAAA | ENSP00000516406.1:p.Gln46LysfsTer? | |
| ENST00000313071.7:c.135_136insAAAA MANE Select | ENSP00000339004.3:p.Gln46LysfsTer? | |
| ENST00000313071.6:c.135_136insAAAA | ENSP00000339004.3:p.Gln46LysfsTer? | |
| NM_005249.4:c.135_136insAAAA | NP_005240.3:p.Gln46LysfsTer? | |
| NM_005249.5:c.135_136insAAAA MANE Select | NP_005240.3:p.Gln46LysfsTer? |