Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536354_42536359delinsTGTATAAGAGACA , CM000679.2:g.42536354_42536359delinsTGTATAAGAGACA | GRCh38 |
| NC_000017.10:g.40688372_40688377delinsTGTATAAGAGACA , CM000679.1:g.40688372_40688377delinsTGTATAAGAGACA | GRCh37 |
| NC_000017.9:g.37941898_37941903delinsTGTATAAGAGACA | NCBI36 |
| NG_011552.1:g.5422_5427delinsTGTATAAGAGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.82_87delinsTGTATAAGAGACA MANE Select | ENSP00000225927.1:p.Glu28CysfsTer? | |
| ENST00000225927.6:c.82_87delinsTGTATAAGAGACA | ENSP00000225927.1:p.Glu28CysfsTer? | |
| NM_000263.3:c.82_87delinsTGTATAAGAGACA | NP_000254.2:p.Glu28CysfsTer? | |
| XM_024450771.1:c.82_87delinsTGTATAAGAGACA | XP_024306539.1:p.Glu28CysfsTer? | |
| NM_000263.4:c.82_87delinsTGTATAAGAGACA MANE Select | NP_000254.2:p.Glu28CysfsTer? |