MyVariant.info:
GRCh38
chr16:g.89546662_89546670del
GRCh38
chr16:g.89546658_89546666del
GRCh38
chr16:g.89546657_89546665del
GRCh37
chr16:g.89613070_89613078del
GRCh37
chr16:g.89613065_89613073del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038833 (NFE)
Genomes Max Group AF
0.00041846 (NFE)
Exomes Max Group AF
0.0003788 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89546662_89546670del , CM000678.2:g.89546662_89546670del | GRCh38 |
| NC_000016.9:g.89613070_89613078del , CM000678.1:g.89613070_89613078del | GRCh37 |
| NC_000016.8:g.88140571_88140579del | NCBI36 |
| NG_008082.1:g.43266_43274del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1433_1441del | ||
| ENST00000563218.6:n.513_521del | ||
| ENST00000566682.2:c.467_475del | ||
| ENST00000569820.6:c.440_448del | ||
| ENST00000642226.1:n.1303_1311del | ||
| ENST00000642263.1:n.205_213del | ||
| ENST00000642334.1:c.2872_2880del | ||
| ENST00000642427.1:n.854_862del | ||
| ENST00000642814.1:n.869_877del | ||
| ENST00000642984.1:n.1050_1058del | ||
| ENST00000643105.1:c.2160_2168del | ||
| ENST00000643350.1:n.511_519del | ||
| ENST00000643370.1:c.628_636del | ||
| ENST00000643409.1:n.1879_1887del | ||
| ENST00000643496.1:n.1271_1279del | ||
| ENST00000643649.1:c.1454_1462del | ||
| ENST00000643668.1:c.*1748_*1756del | ||
| ENST00000643724.1:c.*502_*510del | ||
| ENST00000643734.1:n.4367_4375del | ||
| ENST00000643954.1:c.2353_2361del | ||
| ENST00000644061.1:n.412_420del | ||
| ENST00000644171.1:n.2214_2222del | ||
| ENST00000644210.1:c.*26_*34del | ||
| ENST00000644225.1:n.1471_1479del | ||
| ENST00000644464.1:n.107_115del | ||
| ENST00000644498.1:c.*1273_*1281del | ||
| ENST00000644556.1:n.261-1640_261-1632del | ||
| ENST00000644671.1:c.1111_1119del | ||
| ENST00000644748.1:n.4770_4778del | ||
| ENST00000644751.1:c.851+1890_851+1898del | ||
| ENST00000644781.1:c.1454_1462del | ||
| ENST00000644901.1:c.*1848_*1856del | ||
| ENST00000644930.1:n.2580_2588del | ||
| ENST00000645042.1:c.*228_*236del | ||
| ENST00000645063.1:c.1454_1462del | ||
| ENST00000645354.1:c.2214_2222del | ||
| ENST00000645392.1:n.1795_1803del | ||
| ENST00000645742.1:n.88_96del | ||
| ENST00000645818.2:c.1454_1462del | ||
| ENST00000645842.1:n.1299_1307del | ||
| ENST00000645886.1:c.959_967del | ||
| ENST00000645897.1:c.992_1000del | ||
| ENST00000645944.1:n.1228_1236del | ||
| ENST00000645952.1:n.1319_1327del | ||
| ENST00000645977.1:n.2572_2580del | ||
| ENST00000646005.1:n.1212_1220del | ||
| ENST00000646263.1:c.*327_*335del | ||
| ENST00000646303.1:c.1322_1330del | ||
| ENST00000646399.1:c.2348_2356del | ||
| ENST00000646445.1:c.312_320del | ||
| ENST00000646454.1:n.715_723del | ||
| ENST00000646531.1:c.*77_*85del | ||
| ENST00000646543.1:n.2208_2216del | ||
| ENST00000646589.1:c.*582_*590del | ||
| ENST00000646716.1:c.506_514del | ||
| ENST00000646826.1:c.*127_*135del | ||
| ENST00000646930.1:c.*1383_*1391del | ||
| ENST00000646958.1:n.2499_2507del | ||
| ENST00000647032.1:c.1069_1077del | ||
| ENST00000647079.1:c.1046_1054del | ||
| ENST00000647123.1:n.1411_1419del | ||
| ENST00000647227.1:c.1092_1100del | ||
| ENST00000647302.1:n.2104_2112del | ||
| ENST00000647491.1:n.1198_1206del | ||
| ENST00000268704.6:c.1454_1462del | ||
| ENST00000563218.5:n.180_188del | ||
| ENST00000566221.5:c.52_60del | ||
| ENST00000569820.5:c.339_347del | ||
| ENST00000620811.4:c.-123_-115del | ||
| NM_003119.3:c.1454_1462del | ||
| XM_006721264.2:c.1454_1462del | ||
| NM_001363850.1:c.1454_1462del | ||
| XM_006721264.4:c.1454_1462del | ||
| XM_017023597.1:c.1454_1462del | ||
| XM_017023598.1:c.1454_1462del | ||
| XR_001751971.2:n.1803_1811del | ||
| XR_001751972.2:n.1803_1811del | ||
| NM_003119.4:c.1454_1462del |