Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962768_19962769delinsGA , CM000670.2:g.19962768_19962769delinsGA | GRCh38 |
| NC_000008.10:g.19820279_19820280delinsGA , CM000670.1:g.19820279_19820280delinsGA | GRCh37 |
| NC_000008.9:g.19864559_19864560delinsGA | NCBI36 |
| NG_008855.1:g.28698_28699delinsGA | |
| NG_008855.2:g.66052_66053delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1427+549_1427+550delinsGA MANE Select | ENSP00000497642.1:n.1427+549_1427+550delinsGA | |
| ENST00000650478.1:c.367+549_367+550delinsGA | ENSP00000497560.1:n.367+549_367+550delinsGA | |
| ENST00000311322.8:c.1427+549_1427+550delinsGA | ENSP00000309757.6:n.1427+549_1427+550delinsGA | |
| NM_000237.2:c.1427+549_1427+550delinsGA | NP_000228.1:n.1427+549_1427+550delinsGA | |
| NM_000237.3:c.1427+549_1427+550delinsGA MANE Select | NP_000228.1:n.1427+549_1427+550delinsGA |