Linked Data
ClinVar Variation Id:
265295
dbSNP Id:
rs776155094
ExAC:
11:32456755 GC / G
gnomAD v2:
11-32456755-GC-G
gnomAD v3:
11-32435209-GC-G
gnomAD v4:
11-32435209-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435210del , CM000673.2:g.32435210del | GRCh38 |
| NC_000011.9:g.32456756del , CM000673.1:g.32456756del | GRCh37 |
| NC_000011.8:g.32413332del | NCBI36 |
| NG_009272.1:g.5332del , LRG_525:g.5332del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.151del | ENSP00000331327.5:p.Ala51ProfsTer? | |
| ENST00000379077.9:c.151del | ENSP00000368368.5:p.Ala51ProfsTer? | |
| ENST00000448076.9:c.151del | ENSP00000413452.5:p.Ala51ProfsTer? | |
| ENST00000452863.10:c.151del MANE Select | ENSP00000415516.5:p.Ala51ProfsTer? | |
| ENST00000639563.3:c.151del | ENSP00000492269.3:p.Ala51ProfsTer? | |
| ENST00000332351.7:c.136del | ENSP00000331327.3:p.Ala46ProfsTer? | |
| ENST00000379077.7:c.136del | ENSP00000368368.3:p.Ala46ProfsTer? | |
| ENST00000448076.7:c.136del | ENSP00000413452.3:p.Ala46ProfsTer? | |
| ENST00000452863.7:c.136del | ENSP00000415516.3:p.Ala46ProfsTer? | |
| NM_000378.4:c.136del | NP_000369.3:p.Ala46ProfsTer? | |
| NM_024424.3:c.136del | NP_077742.2:p.Ala46ProfsTer? | |
| NM_024426.4:c.136del | NP_077744.3:p.Ala46ProfsTer? | |
| NM_000378.5:c.151del | NP_000369.4:p.Ala51ProfsTer? | |
| NM_024424.4:c.151del | NP_077742.3:p.Ala51ProfsTer? | |
| NM_024426.5:c.151del | NP_077744.4:p.Ala51ProfsTer? | |
| NR_160306.1:n.330del | ||
| NM_000378.6:c.151del | NP_000369.4:p.Ala51ProfsTer? | |
| NM_024424.5:c.151del | NP_077742.3:p.Ala51ProfsTer? | |
| NM_024426.6:c.151del MANE Select | NP_077744.4:p.Ala51ProfsTer? |