Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274954_2274958delinsGAAAA , CM000681.2:g.2274954_2274958delinsGAAAA | GRCh38 |
| NC_000019.9:g.2274953_2274957delinsGAAAA , CM000681.1:g.2274953_2274957delinsGAAAA | GRCh37 |
| NC_000019.8:g.2225953_2225957delinsGAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*722_*726delinsTTTTC MANE Select | ENSP00000345102.3:n.*722_*726delinsTTTTC | |
| ENST00000342063.4:c.*722_*726delinsTTTTC | ENSP00000345102.3:n.*722_*726delinsTTTTC | |
| ENST00000621615.1:c.146+5210_146+5214delinsGAAAA | ENSP00000481965.1:n.146+5210_146+5214delinsGAAAA | |
| NM_198532.2:c.*722_*726delinsTTTTC | NP_940934.1:n.*722_*726delinsTTTTC | |
| NM_198532.3:c.*722_*726delinsTTTTC MANE Select | NP_940934.1:n.*722_*726delinsTTTTC |