Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535729_1535732delinsAAGT , CM000663.2:g.1535729_1535732delinsAAGT | GRCh38 |
| NC_000001.10:g.1471109_1471112delinsAAGT , CM000663.1:g.1471109_1471112delinsAAGT | GRCh37 |
| NC_000001.9:g.1460972_1460975delinsAAGT | NCBI36 |
| NG_041807.1:g.9629_9632delinsACTT | |
| NG_053035.1:g.28587_28590delinsAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.230_233delinsACTT MANE Select | ENSP00000368007.4:p.Tyr77= | |
| ENST00000378733.8:c.230_233delinsACTT | ENSP00000368007.4:p.Tyr77= | |
| ENST00000425828.1:c.230_233delinsACTT | ENSP00000400311.1:p.Tyr77= | |
| NM_001114748.1:c.230_233delinsACTT | NP_001108220.1:p.Tyr77= | |
| NM_001114748.2:c.230_233delinsACTT MANE Select | NP_001108220.1:p.Tyr77= |