Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003272_8003287delinsGGCCGCCCGCCTGGCC , CM000679.2:g.8003272_8003287delinsGGCCGCCCGCCTGGCC | GRCh38 |
| NC_000017.10:g.7906590_7906605delinsGGCCGCCCGCCTGGCC , CM000679.1:g.7906590_7906605delinsGGCCGCCCGCCTGGCC | GRCh37 |
| NC_000017.9:g.7847315_7847330delinsGGCCGCCCGCCTGGCC | NCBI36 |
| NG_009092.1:g.5603_5618delinsGGCCGCCCGCCTGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.225_240delinsGGCCGCCCGCCTGGCC MANE Select | ENSP00000254854.4:p.Leu75= | |
| ENST00000254854.4:c.225_240delinsGGCCGCCCGCCTGGCC | ENSP00000254854.4:p.Leu75= | |
| NM_000180.3:c.225_240delinsGGCCGCCCGCCTGGCC | NP_000171.1:p.Leu75= | |
| XM_011523816.1:c.225_240delinsGGCCGCCCGCCTGGCC | XP_011522118.1:p.Leu75= | |
| NM_000180.4:c.225_240delinsGGCCGCCCGCCTGGCC MANE Select | NP_000171.1:p.Leu75= |