Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733738_47733739insCGGCTGGTA , CM000679.2:g.47733738_47733739insCGGCTGGTA | GRCh38 |
| NC_000017.10:g.45811104_45811105insCGGCTGGTA , CM000679.1:g.45811104_45811105insCGGCTGGTA | GRCh37 |
| NC_000017.9:g.43166103_43166104insCGGCTGGTA | NCBI36 |
| NG_012166.1:g.5495_5496insCGGCTGGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.284_285insCGGCTGGTA MANE Select | ENSP00000177694.1:p.Pro96GlyfsTer3 | |
| ENST00000177694.1:c.284_285insCGGCTGGTA | ENSP00000177694.1:p.Pro96GlyfsTer3 | |
| ENST00000581328.1:n.314_315insCGGCTGGTA | ||
| NM_013351.1:c.284_285insCGGCTGGTA | NP_037483.1:p.Pro96GlyfsTer3 | |
| XM_011524698.1:c.284_285insCGGCTGGTA | XP_011523000.1:p.Pro96GlyfsTer3 | |
| NM_013351.2:c.284_285insCGGCTGGTA MANE Select | NP_037483.1:p.Pro96GlyfsTer3 |