Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174707_21174708insAAAAAA , CM000674.2:g.21174707_21174708insAAAAAA | GRCh38 |
| NC_000012.11:g.21327641_21327642insAAAAAA , CM000674.1:g.21327641_21327642insAAAAAA | GRCh37 |
| NC_000012.10:g.21218908_21218909insAAAAAA | NCBI36 |
| NG_011745.1:g.48514_48515insAAAAAA , LRG_1022:g.48514_48515insAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.357_358insAAAAAA MANE Select | ENSP00000256958.2:p.Gly119_Tyr120insLysLys | |
| ENST00000256958.2:c.357_358insAAAAAA | ENSP00000256958.2:p.Gly119_Tyr120insLysLys | |
| ENST00000543498.5:c.426-2069_426-2068insAAAAAA | ||
| NM_006446.4:c.357_358insAAAAAA , LRG_1022t1:c.357_358insAAAAAA | NP_006437.3:p.Gly119_Tyr120insLysLys | |
| NM_006446.5:c.357_358insAAAAAA MANE Select | NP_006437.3:p.Gly119_Tyr120insLysLys |