Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871443_14871444del , CM000667.2:g.14871443_14871444del | GRCh38 |
| NC_000005.9:g.14871552_14871553del , CM000667.1:g.14871552_14871553del | GRCh37 |
| NC_000005.8:g.14924552_14924553del | NCBI36 |
| NG_008273.1:g.5336_5337del | |
| NG_008273.2:g.5343_5344del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.5_6del MANE Select | ENSP00000284268.6:p.Val2GlufsTer? | |
| ENST00000284268.6:c.5_6del | ENSP00000284268.6:p.Val2GlufsTer? | |
| ENST00000505140.1:c.5_6del | ENSP00000426332.1:p.Val2GlufsTer? | |
| ENST00000513115.1:n.30_31del | ||
| NM_054027.4:c.5_6del | NP_473368.1:p.Val2GlufsTer? | |
| XM_011514067.1:c.5_6del | XP_011512369.1:p.Val2GlufsTer? | |
| NM_054027.5:c.5_6del | NP_473368.1:p.Val2GlufsTer? | |
| NM_054027.6:c.5_6del MANE Select | NP_473368.1:p.Val2GlufsTer? |