Linked Data
ClinVar Variation Id:
142778
ClinVar RCV Id:
RCV003453094
dbSNP Id:
rs587782710
gnomAD v4:
7-5997375-ACACGGAGT-A
PubMed:
PMID:20487569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5997379_5997386del , CM000669.2:g.5997379_5997386del | GRCh38 |
| NC_000007.13:g.6037010_6037017del , CM000669.1:g.6037010_6037017del | GRCh37 |
| NC_000007.12:g.6003536_6003543del | NCBI36 |
| NG_008466.1:g.16724_16731del , LRG_161:g.16724_16731del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*299+1725_*299+1732del | ENSP00000514615.2:n.*299+1725_*299+1732de... | |
| ENST00000699840.2:c.743_750del | ENSP00000514638.2:p.Asp248ValfsTer2 | |
| ENST00000699930.2:c.638_645del | ENSP00000514695.2:p.Asp213ValfsTer2 | |
| ENST00000406569.8:c.746_753del | ENSP00000514464.1:p.Asp249ValfsTer2 | |
| ENST00000644110.2:c.*340_*347del | ENSP00000496392.2:n.*340_*347del | |
| ENST00000699752.1:c.746_753del | ENSP00000514561.1:p.Asp249ValfsTer2 | |
| ENST00000699753.1:c.*145_*152del | ENSP00000514562.1:n.*145_*152del | |
| ENST00000699754.1:c.705+1725_705+1732del | ENSP00000514563.1:n.705+1725_705+1732del | |
| ENST00000699755.1:c.*145_*152del | ENSP00000514564.1:n.*145_*152del | |
| ENST00000699756.1:c.*333_*340del | ENSP00000514565.1:n.*333_*340del | |
| ENST00000699757.1:c.*3_*10del | ENSP00000514566.1:n.*3_*10del | |
| ENST00000699758.1:c.*3_*10del | ENSP00000514567.1:n.*3_*10del | |
| ENST00000699759.1:n.818_825del | ||
| ENST00000699760.1:c.428_435del | ENSP00000514568.1:p.Asp143ValfsTer2 | |
| ENST00000699761.1:c.341_348del | ENSP00000514569.1:p.Asp114ValfsTer2 | |
| ENST00000699762.1:c.173_180del | ENSP00000514570.1:p.Asp58ValfsTer2 | |
| ENST00000699763.1:c.341_348del | ENSP00000514571.1:p.Asp114ValfsTer2 | |
| ENST00000699764.1:c.746_753del | ENSP00000514572.1:p.Asp249ValfsTer2 | |
| ENST00000699765.1:c.428_435del | ENSP00000514573.1:p.Asp143ValfsTer2 | |
| ENST00000699766.1:c.746_753del | ENSP00000514574.1:p.Asp249ValfsTer2 | |
| ENST00000699767.1:c.746_753del | ENSP00000514575.1:p.Asp249ValfsTer2 | |
| ENST00000699768.1:c.746_753del | ENSP00000514576.1:p.Asp249ValfsTer2 | |
| ENST00000699811.1:c.341_348del | ENSP00000514614.1:p.Asp114ValfsTer2 | |
| ENST00000699813.1:n.859_866del | ||
| ENST00000699814.1:c.526+1725_526+1732del | ||
| ENST00000699815.1:c.*247_*254del | ENSP00000514616.1:n.*247_*254del | |
| ENST00000699816.1:c.341_348del | ENSP00000514617.1:p.Asp114ValfsTer2 | |
| ENST00000699817.1:c.*340_*347del | ENSP00000514618.1:n.*340_*347del | |
| ENST00000699818.1:c.341_348del | ENSP00000514619.1:p.Asp114ValfsTer2 | |
| ENST00000699819.1:c.*3_*10del | ENSP00000514620.1:n.*3_*10del | |
| ENST00000699820.1:c.746_753del | ENSP00000514621.1:p.Asp249ValfsTer2 | |
| ENST00000699821.1:c.341_348del | ENSP00000514622.1:p.Asp114ValfsTer2 | |
| ENST00000699822.1:c.*198_*205del | ENSP00000514623.1:n.*198_*205del | |
| ENST00000699823.1:c.341_348del | ENSP00000514624.1:p.Asp114ValfsTer2 | |
| ENST00000699824.1:c.*249_*256del | ENSP00000514625.1:n.*249_*256del | |
| ENST00000699825.1:c.341_348del | ENSP00000514626.1:p.Asp114ValfsTer2 | |
| ENST00000699826.1:c.*145_*152del | ENSP00000514627.1:n.*145_*152del | |
| ENST00000699827.1:c.578_585del | ENSP00000514628.1:p.Asp193ValfsTer2 | |
| ENST00000699828.1:c.746_753del | ENSP00000514629.1:p.Asp249ValfsTer2 | |
| ENST00000699829.1:c.*247_*254del | ENSP00000514630.1:n.*247_*254del | |
| ENST00000699830.1:c.*145_*152del | ENSP00000514631.1:n.*145_*152del | |
| ENST00000699831.1:n.658_665del | ||
| ENST00000699832.1:n.1029_1036del | ||
| ENST00000699833.1:n.826_833del | ||
| ENST00000699837.1:c.341_348del | ENSP00000514635.1:p.Asp114ValfsTer2 | |
| ENST00000699838.1:c.*646_*653del | ENSP00000514636.1:n.*646_*653del | |
| ENST00000699839.1:c.932_939del | ENSP00000514637.1:p.Asp311ValfsTer2 | |
| ENST00000699840.1:c.743_750del | ENSP00000514638.1:p.Asp248ValfsTer2 | |
| ENST00000699916.1:c.*3_*10del | ENSP00000514684.1:n.*3_*10del | |
| ENST00000699917.1:c.*195_*202del | ENSP00000514685.1:n.*195_*202del | |
| ENST00000699918.1:c.*247_*254del | ENSP00000514686.1:n.*247_*254del | |
| ENST00000699919.1:c.*333_*340del | ENSP00000514687.1:n.*333_*340del | |
| ENST00000699920.1:c.*382_*389del | ENSP00000514688.1:n.*382_*389del | |
| ENST00000699928.1:c.746_753del | ENSP00000514693.1:p.Asp249ValfsTer2 | |
| ENST00000699929.1:c.*104+1725_*104+1732del | ENSP00000514694.1:n.*104+1725_*104+1732de... | |
| ENST00000699930.1:c.638_645del | ENSP00000514695.1:p.Asp213ValfsTer2 | |
| ENST00000699931.1:n.857_864del | ||
| ENST00000699932.1:c.746_753del | ENSP00000514696.1:p.Asp249ValfsTer2 | |
| ENST00000699933.1:n.826_833del | ||
| ENST00000699951.1:c.746_753del | ENSP00000514706.1:p.Asp249ValfsTer2 | |
| ENST00000699952.1:c.746_753del | ENSP00000514707.1:p.Asp249ValfsTer2 | |
| ENST00000699953.1:c.705+1725_705+1732del | ENSP00000514708.1:n.705+1725_705+1732del | |
| ENST00000699954.1:c.*104+1725_*104+1732del | ENSP00000514709.1:n.*104+1725_*104+1732de... | |
| ENST00000265849.12:c.746_753del MANE Select | ENSP00000265849.7:p.Asp249ValfsTer2 | |
| ENST00000642292.1:c.341_348del | ENSP00000495524.1:p.Asp114ValfsTer2 | |
| ENST00000642456.1:c.341_348del | ENSP00000493814.1:p.Asp114ValfsTer2 | |
| ENST00000643595.1:c.*145_*152del | ENSP00000494497.1:n.*145_*152del | |
| ENST00000644110.1:c.428_435del | ENSP00000496392.1:p.Asp143ValfsTer2 | |
| ENST00000265849.11:c.746_753del | ENSP00000265849.7:p.Asp249ValfsTer2 | |
| ENST00000382321.5:c.746_753del | ENSP00000371758.4:p.Asp249ValfsTer2 | |
| ENST00000406569.7:n.746_753del | ||
| ENST00000441476.6:c.428_435del | ENSP00000392843.2:p.Asp143ValfsTer2 | |
| ENST00000469652.1:n.62+8610_62+8617del | ||
| NM_000535.5:c.746_753del , LRG_161t1:c.746_753del | NP_000526.1:p.Asp249ValfsTer2 | |
| NR_003085.2:n.828_835del | ||
| XM_006715742.2:c.740_747del | XP_006715805.1:p.Asp247ValfsTer2 | |
| XM_011515427.1:c.791_798del | XP_011513729.1:p.Asp264ValfsTer2 | |
| XM_011515428.1:c.791_798del | XP_011513730.1:p.Asp264ValfsTer2 | |
| XM_011515429.1:c.428_435del | XP_011513731.1:p.Asp143ValfsTer2 | |
| XM_011515430.1:c.428_435del | XP_011513732.1:p.Asp143ValfsTer2 | |
| NM_000535.6:c.746_753del | NP_000526.2:p.Asp249ValfsTer2 | |
| NM_001322003.1:c.341_348del | NP_001308932.1:p.Asp114ValfsTer2 | |
| NM_001322004.1:c.341_348del | NP_001308933.1:p.Asp114ValfsTer2 | |
| NM_001322005.1:c.341_348del | NP_001308934.1:p.Asp114ValfsTer2 | |
| NM_001322006.1:c.746_753del | NP_001308935.1:p.Asp249ValfsTer2 | |
| NM_001322007.1:c.428_435del | NP_001308936.1:p.Asp143ValfsTer2 | |
| NM_001322008.1:c.428_435del | NP_001308937.1:p.Asp143ValfsTer2 | |
| NM_001322009.1:c.341_348del | NP_001308938.1:p.Asp114ValfsTer2 | |
| NM_001322010.1:c.341_348del | NP_001308939.1:p.Asp114ValfsTer2 | |
| NM_001322011.1:c.-188_-181del | NP_001308940.1:n.-188_-181del | |
| NM_001322012.1:c.-188_-181del | NP_001308941.1:n.-188_-181del | |
| NM_001322013.1:c.173_180del | NP_001308942.1:p.Asp58ValfsTer2 | |
| NM_001322014.1:c.746_753del | NP_001308943.1:p.Asp249ValfsTer2 | |
| NM_001322015.1:c.437_444del | NP_001308944.1:p.Asp146ValfsTer2 | |
| NR_136154.1:n.833_840del | ||
| XM_017012342.2:c.-88_-81del | XP_016867831.1:n.-88_-81del | |
| XM_024446800.1:c.341_348del | XP_024302568.1:p.Asp114ValfsTer2 | |
| NM_000535.7:c.746_753del MANE Select | NP_000526.2:p.Asp249ValfsTer2 | |
| NM_001322003.2:c.341_348del | NP_001308932.1:p.Asp114ValfsTer2 | |
| NM_001322004.2:c.341_348del | NP_001308933.1:p.Asp114ValfsTer2 | |
| NM_001322005.2:c.341_348del | NP_001308934.1:p.Asp114ValfsTer2 | |
| NM_001322006.2:c.746_753del | NP_001308935.1:p.Asp249ValfsTer2 | |
| NM_001322008.2:c.428_435del | NP_001308937.1:p.Asp143ValfsTer2 | |
| NM_001322009.2:c.341_348del | NP_001308938.1:p.Asp114ValfsTer2 | |
| NM_001322010.2:c.341_348del | NP_001308939.1:p.Asp114ValfsTer2 | |
| NM_001322011.2:c.-188_-181del | NP_001308940.1:n.-188_-181del | |
| NM_001322012.2:c.-188_-181del | NP_001308941.1:n.-188_-181del | |
| NM_001322013.2:c.173_180del | NP_001308942.1:p.Asp58ValfsTer2 | |
| NM_001322014.2:c.746_753del | NP_001308943.1:p.Asp249ValfsTer2 | |
| NM_001322015.2:c.437_444del | NP_001308944.1:p.Asp146ValfsTer2 | |
| NM_001322007.2:c.428_435del | NP_001308936.1:p.Asp143ValfsTer2 |