Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750778_27750779insAAAA , CM000684.2:g.27750778_27750779insAAAA | GRCh38 |
| NC_000022.10:g.28146766_28146767insAAAA , CM000684.1:g.28146766_28146767insAAAA | GRCh37 |
| NC_000022.9:g.26476766_26476767insAAAA | NCBI36 |
| NG_023258.1:g.55721_55722insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.625_626insTTTT | ||
| ENST00000302326.5:c.*137_*138insTTTT MANE Select | ENSP00000304956.4:n.*137_*138insTTTT | |
| ENST00000302326.4:c.*137_*138insTTTT | ENSP00000304956.4:n.*137_*138insTTTT | |
| ENST00000424656.1:c.453_454insTTTT | ||
| ENST00000497225.1:n.456_457insTTTT | ||
| NM_002430.2:c.*137_*138insTTTT | NP_002421.3:n.*137_*138insTTTT | |
| NM_002430.3:c.*137_*138insTTTT MANE Select | NP_002421.3:n.*137_*138insTTTT |