Linked Data
gnomAD v4:
17-42536327-G-GGGGGCGCGGCAGGCGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536329_42536345dup , CM000679.2:g.42536329_42536345dup | GRCh38 |
| NC_000017.10:g.40688347_40688363dup , CM000679.1:g.40688347_40688363dup | GRCh37 |
| NC_000017.9:g.37941873_37941889dup | NCBI36 |
| NG_011552.1:g.5397_5413dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.57_73dup MANE Select | ENSP00000225927.1:p.Glu25GlyfsTer? | |
| ENST00000225927.6:c.57_73dup | ENSP00000225927.1:p.Glu25GlyfsTer? | |
| NM_000263.3:c.57_73dup | NP_000254.2:p.Glu25GlyfsTer? | |
| XM_024450771.1:c.57_73dup | XP_024306539.1:p.Glu25GlyfsTer? | |
| NM_000263.4:c.57_73dup MANE Select | NP_000254.2:p.Glu25GlyfsTer? |