Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531013_129531018delinsTGCGCC , CM000665.2:g.129531013_129531018delinsTGCGCC | GRCh38 |
| NC_000003.11:g.129249856_129249861delinsTGCGCC , CM000665.1:g.129249856_129249861delinsTGCGCC | GRCh37 |
| NC_000003.10:g.130732546_130732551delinsTGCGCC | NCBI36 |
| NG_009115.1:g.7375_7380delinsTGCGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.499_504delinsTGCGCC MANE Select | ENSP00000296271.3:p.Cys167= | |
| ENST00000296271.3:c.499_504delinsTGCGCC | ENSP00000296271.3:p.Cys167= | |
| NM_000539.3:c.499_504delinsTGCGCC MANE Select | NP_000530.1:p.Cys167= |