MyVariant.info:
GRCh38
chr8:g.27780191_27780192del
GRCh38
chr8:g.27780189_27780190del
GRCh37
chr8:g.27637708_27637709del
GRCh37
chr8:g.27637706_27637707del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005324 (NFE)
Genomes Max Group AF
0.00000803 (AFR)
Exomes Max Group AF
0.00005626 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27780191_27780192del , CM000670.2:g.27780191_27780192del | GRCh38 |
| NC_000008.10:g.27637708_27637709del , CM000670.1:g.27637708_27637709del | GRCh37 |
| NC_000008.9:g.27693627_27693628del | NCBI36 |
| NG_008117.1:g.10651_10652del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.879_880del MANE Select | ENSP00000306999.8:p.Arg293SerfsTer7 | |
| ENST00000305188.12:c.879_880del | ENSP00000306999.8:p.Arg293SerfsTer7 | |
| ENST00000522378.5:c.861+3022_861+3023del | ENSP00000428928.1:n.861+3022_861+3023del | |
| ENST00000523910.1:n.678_679del | ||
| NM_001017420.2:c.879_880del | NP_001017420.1:p.Arg293SerfsTer7 | |
| XM_011544421.1:c.879_880del | XP_011542723.1:p.Arg293SerfsTer7 | |
| XM_011544422.1:c.879_880del | XP_011542724.1:p.Arg293SerfsTer7 | |
| XR_949378.1:n.963_964del | ||
| XR_949379.1:n.963_964del | ||
| XM_011544421.2:c.879_880del | XP_011542723.1:p.Arg293SerfsTer7 | |
| XM_011544422.2:c.879_880del | XP_011542724.1:p.Arg293SerfsTer7 | |
| XR_949378.3:n.963_964del | ||
| NM_001017420.3:c.879_880del MANE Select | NP_001017420.1:p.Arg293SerfsTer7 |