gnomAD v4:
Joint Max Group AF
0.00000501 (NFE)
Exomes Max Group AF
0.00000532 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5989926del , CM000669.2:g.5989926del | GRCh38 |
| NC_000007.13:g.6029557del , CM000669.1:g.6029557del | GRCh37 |
| NC_000007.12:g.5996083del | NCBI36 |
| NG_008466.1:g.24184del , LRG_161:g.24184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*417del | ENSP00000514615.2:n.*417del | |
| ENST00000699840.2:c.1018del | ENSP00000514638.2:p.Arg340GlyfsTer15 | |
| ENST00000699930.2:c.913del | ENSP00000514695.2:p.Arg305GlyfsTer15 | |
| ENST00000406569.8:c.1021del | ENSP00000514464.1:p.Arg341GlyfsTer15 | |
| ENST00000644110.2:c.*615del | ENSP00000496392.2:n.*615del | |
| ENST00000699752.1:c.988+2050del | ENSP00000514561.1:n.988+2050del | |
| ENST00000699753.1:c.*442del | ENSP00000514562.1:n.*442del | |
| ENST00000699754.1:c.823del | ENSP00000514563.1:p.Arg275GlyfsTer15 | |
| ENST00000699755.1:c.*420del | ENSP00000514564.1:n.*420del | |
| ENST00000699756.1:c.*608del | ENSP00000514565.1:n.*608del | |
| ENST00000699757.1:c.*278del | ENSP00000514566.1:n.*278del | |
| ENST00000699758.1:c.*278del | ENSP00000514567.1:n.*278del | |
| ENST00000699759.1:n.1875del | ||
| ENST00000699760.1:c.703del | ENSP00000514568.1:p.Arg235GlyfsTer15 | |
| ENST00000699761.1:c.616del | ENSP00000514569.1:p.Arg206GlyfsTer15 | |
| ENST00000699762.1:c.448del | ENSP00000514570.1:p.Arg150GlyfsTer15 | |
| ENST00000699763.1:c.*111del | ENSP00000514571.1:n.*111del | |
| ENST00000699764.1:c.1021del | ENSP00000514572.1:p.Arg341GlyfsTer15 | |
| ENST00000699765.1:c.*117del | ENSP00000514573.1:n.*117del | |
| ENST00000699766.1:c.1021del | ENSP00000514574.1:p.Arg341GlyfsTer15 | |
| ENST00000699767.1:c.1021del | ENSP00000514575.1:p.Arg341GlyfsTer15 | |
| ENST00000699768.1:c.1021del | ENSP00000514576.1:p.Arg341GlyfsTer15 | |
| ENST00000699811.1:c.616del | ENSP00000514614.1:p.Arg206GlyfsTer15 | |
| ENST00000699813.1:n.1134del | ||
| ENST00000699814.1:c.644del | ||
| ENST00000699815.1:c.*513del | ENSP00000514616.1:n.*513del | |
| ENST00000699816.1:c.616del | ENSP00000514617.1:p.Arg206GlyfsTer15 | |
| ENST00000699817.1:c.*615del | ENSP00000514618.1:n.*615del | |
| ENST00000699818.1:c.616del | ENSP00000514619.1:p.Arg206GlyfsTer15 | |
| ENST00000699819.1:c.*178del | ENSP00000514620.1:n.*178del | |
| ENST00000699820.1:c.1021del | ENSP00000514621.1:p.Arg341GlyfsTer15 | |
| ENST00000699821.1:c.616del | ENSP00000514622.1:p.Arg206GlyfsTer15 | |
| ENST00000699822.1:c.*473del | ENSP00000514623.1:n.*473del | |
| ENST00000699823.1:c.616del | ENSP00000514624.1:p.Arg206GlyfsTer15 | |
| ENST00000699824.1:c.*524del | ENSP00000514625.1:n.*524del | |
| ENST00000699825.1:c.583+2050del | ENSP00000514626.1:n.583+2050del | |
| ENST00000699826.1:c.*420del | ENSP00000514627.1:n.*420del | |
| ENST00000699827.1:c.853del | ENSP00000514628.1:p.Arg285GlyfsTer15 | |
| ENST00000699828.1:c.*111del | ENSP00000514629.1:n.*111del | |
| ENST00000699829.1:c.*522del | ENSP00000514630.1:n.*522del | |
| ENST00000699830.1:c.*420del | ENSP00000514631.1:n.*420del | |
| ENST00000699833.1:n.2793del | ||
| ENST00000699837.1:c.616del | ENSP00000514635.1:p.Arg206GlyfsTer15 | |
| ENST00000699838.1:c.*921del | ENSP00000514636.1:n.*921del | |
| ENST00000699839.1:c.1207del | ENSP00000514637.1:p.Arg403GlyfsTer15 | |
| ENST00000699840.1:c.1018del | ENSP00000514638.1:p.Arg340GlyfsTer15 | |
| ENST00000699916.1:c.*278del | ENSP00000514684.1:n.*278del | |
| ENST00000699917.1:c.*470del | ENSP00000514685.1:n.*470del | |
| ENST00000699918.1:c.*522del | ENSP00000514686.1:n.*522del | |
| ENST00000699919.1:c.*608del | ENSP00000514687.1:n.*608del | |
| ENST00000699920.1:c.*657del | ENSP00000514688.1:n.*657del | |
| ENST00000699928.1:c.988+2050del | ENSP00000514693.1:n.988+2050del | |
| ENST00000699929.1:c.*322del | ENSP00000514694.1:n.*322del | |
| ENST00000699930.1:c.913del | ENSP00000514695.1:p.Arg305GlyfsTer15 | |
| ENST00000699931.1:n.2449del | ||
| ENST00000699932.1:c.*239del | ENSP00000514696.1:n.*239del | |
| ENST00000699933.1:n.1001del | ||
| ENST00000699951.1:c.*117del | ENSP00000514706.1:n.*117del | |
| ENST00000699952.1:c.803+7403del | ENSP00000514707.1:n.803+7403del | |
| ENST00000699953.1:c.*128del | ENSP00000514708.1:n.*128del | |
| ENST00000699954.1:c.*322del | ENSP00000514709.1:n.*322del | |
| ENST00000265849.12:c.1021del MANE Select | ENSP00000265849.7:p.Arg341GlyfsTer15 | |
| ENST00000642292.1:c.616del | ENSP00000495524.1:p.Arg206GlyfsTer15 | |
| ENST00000642456.1:c.616del | ENSP00000493814.1:p.Arg206GlyfsTer15 | |
| ENST00000643595.1:c.*420del | ENSP00000494497.1:n.*420del | |
| ENST00000644110.1:c.703del | ENSP00000496392.1:p.Arg235GlyfsTer15 | |
| ENST00000265849.11:c.1021del | ENSP00000265849.7:p.Arg341GlyfsTer15 | |
| ENST00000382321.5:c.804-6932del | ENSP00000371758.4:n.804-6932del | |
| ENST00000406569.7:n.1021del | ||
| ENST00000441476.6:c.703del | ENSP00000392843.2:p.Arg235GlyfsTer15 | |
| ENST00000469652.1:n.63-7018del | ||
| NM_000535.5:c.1021del , LRG_161t1:c.1021del | NP_000526.1:p.Arg341GlyfsTer15 | |
| NR_003085.2:n.1103del | ||
| XM_006715742.2:c.1015del | XP_006715805.1:p.Arg339GlyfsTer15 | |
| XM_006715744.2:c.88del | XP_006715807.1:p.Arg30GlyfsTer15 | |
| XM_011515427.1:c.1066del | XP_011513729.1:p.Arg356GlyfsTer15 | |
| XM_011515428.1:c.1033+2050del | XP_011513730.1:n.1033+2050del | |
| XM_011515429.1:c.703del | XP_011513731.1:p.Arg235GlyfsTer15 | |
| XM_011515430.1:c.703del | XP_011513732.1:p.Arg235GlyfsTer15 | |
| NM_000535.6:c.1021del | NP_000526.2:p.Arg341GlyfsTer15 | |
| NM_001322003.1:c.616del | NP_001308932.1:p.Arg206GlyfsTer15 | |
| NM_001322004.1:c.616del | NP_001308933.1:p.Arg206GlyfsTer15 | |
| NM_001322005.1:c.616del | NP_001308934.1:p.Arg206GlyfsTer15 | |
| NM_001322006.1:c.988+2050del | NP_001308935.1:n.988+2050del | |
| NM_001322007.1:c.703del | NP_001308936.1:p.Arg235GlyfsTer15 | |
| NM_001322008.1:c.703del | NP_001308937.1:p.Arg235GlyfsTer15 | |
| NM_001322009.1:c.616del | NP_001308938.1:p.Arg206GlyfsTer15 | |
| NM_001322010.1:c.583+2050del | NP_001308939.1:n.583+2050del | |
| NM_001322011.1:c.88del | NP_001308940.1:p.Arg30GlyfsTer15 | |
| NM_001322012.1:c.88del | NP_001308941.1:p.Arg30GlyfsTer15 | |
| NM_001322013.1:c.448del | NP_001308942.1:p.Arg150GlyfsTer15 | |
| NM_001322014.1:c.1021del | NP_001308943.1:p.Arg341GlyfsTer15 | |
| NM_001322015.1:c.712del | NP_001308944.1:p.Arg238GlyfsTer15 | |
| NR_136154.1:n.1108del | ||
| XM_006715744.4:c.88del | XP_006715807.1:p.Arg30GlyfsTer15 | |
| XM_017012342.2:c.88del | XP_016867831.1:p.Arg30GlyfsTer15 | |
| XM_024446800.1:c.583+2050del | XP_024302568.1:n.583+2050del | |
| NM_000535.7:c.1021del MANE Select | NP_000526.2:p.Arg341GlyfsTer15 | |
| NM_001322003.2:c.616del | NP_001308932.1:p.Arg206GlyfsTer15 | |
| NM_001322004.2:c.616del | NP_001308933.1:p.Arg206GlyfsTer15 | |
| NM_001322005.2:c.616del | NP_001308934.1:p.Arg206GlyfsTer15 | |
| NM_001322006.2:c.988+2050del | NP_001308935.1:n.988+2050del | |
| NM_001322008.2:c.703del | NP_001308937.1:p.Arg235GlyfsTer15 | |
| NM_001322009.2:c.616del | NP_001308938.1:p.Arg206GlyfsTer15 | |
| NM_001322010.2:c.583+2050del | NP_001308939.1:n.583+2050del | |
| NM_001322011.2:c.88del | NP_001308940.1:p.Arg30GlyfsTer15 | |
| NM_001322012.2:c.88del | NP_001308941.1:p.Arg30GlyfsTer15 | |
| NM_001322013.2:c.448del | NP_001308942.1:p.Arg150GlyfsTer15 | |
| NM_001322014.2:c.1021del | NP_001308943.1:p.Arg341GlyfsTer15 | |
| NM_001322015.2:c.712del | NP_001308944.1:p.Arg238GlyfsTer15 | |
| NM_001322007.2:c.703del | NP_001308936.1:p.Arg235GlyfsTer15 |