Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176042_70176045delinsCACT , CM000679.2:g.70176042_70176045delinsCACT | GRCh38 |
| NC_000017.10:g.68172183_68172186delinsCACT , CM000679.1:g.68172183_68172186delinsCACT | GRCh37 |
| NC_000017.9:g.65683778_65683781delinsCACT | NCBI36 |
| NG_008798.1:g.11508_11511delinsCACT , LRG_328:g.11508_11511delinsCACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.1003_1006delinsCACT MANE Select | ENSP00000243457.2:p.His335= | |
| ENST00000243457.3:c.1003_1006delinsCACT | ENSP00000243457.2:p.His335= | |
| ENST00000535240.1:c.1003_1006delinsCACT | ENSP00000441848.1:p.His335= | |
| NM_000891.2:c.1003_1006delinsCACT , LRG_328t1:c.1003_1006delinsCACT | NP_000882.1:p.His335= | |
| XM_011524779.1:c.1003_1006delinsCACT | XP_011523081.1:p.His335= | |
| NM_000891.3:c.1003_1006delinsCACT MANE Select | NP_000882.1:p.His335= |