Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256063_24256073delinsCGCAGCAGAAG , CM000676.2:g.24256063_24256073delinsCGCAGCAGAAG | GRCh38 |
| NC_000014.8:g.24725269_24725279delinsCGCAGCAGAAG , CM000676.1:g.24725269_24725279delinsCGCAGCAGAAG | GRCh37 |
| NC_000014.7:g.23795109_23795119delinsCGCAGCAGAAG | NCBI36 |
| NG_007150.1:g.12094_12104delinsCTTCTGCTGCG | |
| NG_007150.2:g.12094_12104delinsCTTCTGCTGCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1407_1417delinsCTTCTGCTGCG MANE Select | ENSP00000206765.6:p.Ile469= | |
| ENST00000206765.10:c.1407_1417delinsCTTCTGCTGCG | ENSP00000206765.6:p.Ile469= | |
| ENST00000544573.5:c.81_91delinsCTTCTGCTGCG | ENSP00000439446.1:p.Ile27= | |
| ENST00000559136.1:c.480_490delinsCTTCTGCTGCG | ENSP00000453337.1:p.Ile160= | |
| NM_000359.2:c.1407_1417delinsCTTCTGCTGCG | NP_000350.1:p.Ile469= | |
| NM_000359.3:c.1407_1417delinsCTTCTGCTGCG MANE Select | NP_000350.1:p.Ile469= |