MyVariant.info:
GRCh38
chr8:g.31065046_31065047del
GRCh38
chr8:g.31065045_31065046del
GRCh37
chr8:g.30922562_30922563del
GRCh37
chr8:g.30922561_30922562del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31065046_31065047del , CM000670.2:g.31065046_31065047del | GRCh38 |
| NC_000008.10:g.30922562_30922563del , CM000670.1:g.30922562_30922563del | GRCh37 |
| NC_000008.9:g.31042104_31042105del | NCBI36 |
| NG_008870.1:g.36785_36786del , LRG_524:g.36785_36786del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.487_488del MANE Select | ENSP00000298139.5:p.Asp163CysfsTer4 | |
| ENST00000650667.1:c.*101_*102del | ENSP00000498593.1:n.*101_*102del | |
| ENST00000298139.5:c.487_488del | ENSP00000298139.5:p.Asp163CysfsTer4 | |
| NM_000553.4:c.487_488del , LRG_524t1:c.487_488del | NP_000544.2:p.Asp163CysfsTer4 | |
| XM_011544639.1:c.487_488del | XP_011542941.1:p.Asp163CysfsTer4 | |
| XR_949470.1:n.760_761del | ||
| XR_949471.1:n.760_761del | ||
| XR_949472.1:n.760_761del | ||
| NM_000553.5:c.487_488del | NP_000544.2:p.Asp163CysfsTer4 | |
| XM_011544639.3:c.487_488del | XP_011542941.1:p.Asp163CysfsTer4 | |
| XM_024447265.1:c.277_278del | XP_024303033.1:p.Asp93CysfsTer4 | |
| XR_949470.3:n.788_789del | ||
| XR_949471.3:n.788_789del | ||
| XR_949472.3:n.788_789del | ||
| NM_000553.6:c.487_488del MANE Select | NP_000544.2:p.Asp163CysfsTer4 |