Linked Data
ClinVar Variation Id:
265586
dbSNP Id:
rs886039646
gnomAD v3:
7-5973466-CA-C
gnomAD v4:
7-5973466-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973467del , CM000669.2:g.5973467del | GRCh38 |
| NC_000007.13:g.6013098del , CM000669.1:g.6013098del | GRCh37 |
| NC_000007.12:g.5979624del | NCBI36 |
| NG_008466.1:g.40640del , LRG_161:g.40640del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1917del | ENSP00000514615.2:n.*1917del | |
| ENST00000699840.2:c.2518del | ENSP00000514638.2:p.Trp840GlyfsTer10 | |
| ENST00000699930.2:c.2413del | ENSP00000514695.2:p.Trp805GlyfsTer10 | |
| ENST00000406569.8:c.1881del | ENSP00000514464.1:n.1881del | |
| ENST00000644110.2:c.*2115del | ENSP00000496392.2:n.*2115del | |
| ENST00000699752.1:c.2365del | ENSP00000514561.1:p.Trp789GlyfsTer10 | |
| ENST00000699753.1:c.*1942del | ENSP00000514562.1:n.*1942del | |
| ENST00000699754.1:c.2323del | ENSP00000514563.1:p.Trp775GlyfsTer10 | |
| ENST00000699755.1:c.*1920del | ENSP00000514564.1:n.*1920del | |
| ENST00000699756.1:c.*2108del | ENSP00000514565.1:n.*2108del | |
| ENST00000699757.1:c.*1778del | ENSP00000514566.1:n.*1778del | |
| ENST00000699758.1:c.*1778del | ENSP00000514567.1:n.*1778del | |
| ENST00000699759.1:n.3375del | ||
| ENST00000699760.1:c.2203del | ENSP00000514568.1:p.Trp735GlyfsTer10 | |
| ENST00000699761.1:c.2116del | ENSP00000514569.1:p.Trp706GlyfsTer10 | |
| ENST00000699762.1:c.1948del | ENSP00000514570.1:p.Trp650GlyfsTer10 | |
| ENST00000699763.1:c.*1611del | ENSP00000514571.1:n.*1611del | |
| ENST00000699764.1:c.*839del | ENSP00000514572.1:n.*839del | |
| ENST00000699765.1:c.*1516del | ENSP00000514573.1:n.*1516del | |
| ENST00000699766.1:c.2554del | ENSP00000514574.1:p.Trp852GlyfsTer10 | |
| ENST00000699767.1:c.*162del | ENSP00000514575.1:n.*162del | |
| ENST00000699768.1:c.2377del | ENSP00000514576.1:p.Trp793GlyfsTer10 | |
| ENST00000699811.1:c.2116del | ENSP00000514614.1:p.Trp706GlyfsTer10 | |
| ENST00000699813.1:n.2634del | ||
| ENST00000699814.1:c.2144del | ||
| ENST00000699815.1:c.*2052del | ENSP00000514616.1:n.*2052del | |
| ENST00000699816.1:c.*1411del | ENSP00000514617.1:n.*1411del | |
| ENST00000699817.1:c.*2115del | ENSP00000514618.1:n.*2115del | |
| ENST00000699818.1:c.2116del | ENSP00000514619.1:p.Trp706GlyfsTer10 | |
| ENST00000699819.1:c.*1678del | ENSP00000514620.1:n.*1678del | |
| ENST00000699820.1:c.*459del | ENSP00000514621.1:n.*459del | |
| ENST00000699821.1:c.2149del | ENSP00000514622.1:p.Trp717GlyfsTer10 | |
| ENST00000699822.1:c.*1973del | ENSP00000514623.1:n.*1973del | |
| ENST00000699823.1:c.2116del | ENSP00000514624.1:p.Trp706GlyfsTer10 | |
| ENST00000699824.1:c.*2024del | ENSP00000514625.1:n.*2024del | |
| ENST00000699825.1:c.1960del | ENSP00000514626.1:p.Trp654GlyfsTer10 | |
| ENST00000699826.1:c.*1920del | ENSP00000514627.1:n.*1920del | |
| ENST00000699827.1:c.2353del | ENSP00000514628.1:p.Trp785GlyfsTer10 | |
| ENST00000699828.1:c.*1611del | ENSP00000514629.1:n.*1611del | |
| ENST00000699833.1:n.4293del | ||
| ENST00000699837.1:c.2116del | ENSP00000514635.1:p.Trp706GlyfsTer10 | |
| ENST00000699838.1:c.*2421del | ENSP00000514636.1:n.*2421del | |
| ENST00000699839.1:c.2707del | ENSP00000514637.1:p.Trp903GlyfsTer10 | |
| ENST00000699916.1:c.*1778del | ENSP00000514684.1:n.*1778del | |
| ENST00000699917.1:c.*1970del | ENSP00000514685.1:n.*1970del | |
| ENST00000699918.1:c.*2022del | ENSP00000514686.1:n.*2022del | |
| ENST00000699919.1:c.*2108del | ENSP00000514687.1:n.*2108del | |
| ENST00000699920.1:c.*2157del | ENSP00000514688.1:n.*2157del | |
| ENST00000699928.1:c.*459del | ENSP00000514693.1:n.*459del | |
| ENST00000699951.1:c.*1574del | ENSP00000514706.1:n.*1574del | |
| ENST00000699952.1:c.*75del | ENSP00000514707.1:n.*75del | |
| ENST00000265849.12:c.2521del MANE Select | ENSP00000265849.7:p.Trp841GlyfsTer10 | |
| ENST00000642292.1:c.2116del | ENSP00000495524.1:p.Trp706GlyfsTer10 | |
| ENST00000642456.1:c.2116del | ENSP00000493814.1:p.Trp706GlyfsTer10 | |
| ENST00000643595.1:c.*1920del | ENSP00000494497.1:n.*1920del | |
| ENST00000644110.1:c.2203del | ENSP00000496392.1:p.Trp735GlyfsTer10 | |
| ENST00000265849.11:c.2521del | ENSP00000265849.7:p.Trp841GlyfsTer10 | |
| ENST00000382321.5:c.1318del | ENSP00000371758.4:p.Trp440GlyfsTer10 | |
| ENST00000441476.6:c.2203del | ENSP00000392843.2:p.Trp735GlyfsTer10 | |
| NM_000535.5:c.2521del , LRG_161t1:c.2521del | NP_000526.1:p.Trp841GlyfsTer10 | |
| NR_003085.2:n.2603del | ||
| XM_006715742.2:c.2515del | XP_006715805.1:p.Trp839GlyfsTer10 | |
| XM_006715744.2:c.1588del | XP_006715807.1:p.Trp530GlyfsTer10 | |
| XM_011515427.1:c.2566del | XP_011513729.1:p.Trp856GlyfsTer10 | |
| XM_011515428.1:c.2410del | XP_011513730.1:p.Trp804GlyfsTer10 | |
| XM_011515429.1:c.2203del | XP_011513731.1:p.Trp735GlyfsTer10 | |
| XM_011515430.1:c.2203del | XP_011513732.1:p.Trp735GlyfsTer10 | |
| NM_000535.6:c.2521del | NP_000526.2:p.Trp841GlyfsTer10 | |
| NM_001322003.1:c.2116del | NP_001308932.1:p.Trp706GlyfsTer10 | |
| NM_001322004.1:c.2116del | NP_001308933.1:p.Trp706GlyfsTer10 | |
| NM_001322005.1:c.2116del | NP_001308934.1:p.Trp706GlyfsTer10 | |
| NM_001322006.1:c.2365del | NP_001308935.1:p.Trp789GlyfsTer10 | |
| NM_001322007.1:c.2203del | NP_001308936.1:p.Trp735GlyfsTer10 | |
| NM_001322008.1:c.2203del | NP_001308937.1:p.Trp735GlyfsTer10 | |
| NM_001322009.1:c.2149del | NP_001308938.1:p.Trp717GlyfsTer10 | |
| NM_001322010.1:c.1960del | NP_001308939.1:p.Trp654GlyfsTer10 | |
| NM_001322011.1:c.1588del | NP_001308940.1:p.Trp530GlyfsTer10 | |
| NM_001322012.1:c.1588del | NP_001308941.1:p.Trp530GlyfsTer10 | |
| NM_001322013.1:c.1948del | NP_001308942.1:p.Trp650GlyfsTer10 | |
| NM_001322014.1:c.2554del | NP_001308943.1:p.Trp852GlyfsTer10 | |
| NM_001322015.1:c.2212del | NP_001308944.1:p.Trp738GlyfsTer10 | |
| NR_136154.1:n.2565del | ||
| XM_006715744.4:c.1588del | XP_006715807.1:p.Trp530GlyfsTer10 | |
| XM_017012342.2:c.1588del | XP_016867831.1:p.Trp530GlyfsTer10 | |
| XM_024446800.1:c.1960del | XP_024302568.1:p.Trp654GlyfsTer10 | |
| NM_000535.7:c.2521del MANE Select | NP_000526.2:p.Trp841GlyfsTer10 | |
| NM_001322003.2:c.2116del | NP_001308932.1:p.Trp706GlyfsTer10 | |
| NM_001322004.2:c.2116del | NP_001308933.1:p.Trp706GlyfsTer10 | |
| NM_001322005.2:c.2116del | NP_001308934.1:p.Trp706GlyfsTer10 | |
| NM_001322006.2:c.2365del | NP_001308935.1:p.Trp789GlyfsTer10 | |
| NM_001322008.2:c.2203del | NP_001308937.1:p.Trp735GlyfsTer10 | |
| NM_001322009.2:c.2149del | NP_001308938.1:p.Trp717GlyfsTer10 | |
| NM_001322010.2:c.1960del | NP_001308939.1:p.Trp654GlyfsTer10 | |
| NM_001322011.2:c.1588del | NP_001308940.1:p.Trp530GlyfsTer10 | |
| NM_001322012.2:c.1588del | NP_001308941.1:p.Trp530GlyfsTer10 | |
| NM_001322013.2:c.1948del | NP_001308942.1:p.Trp650GlyfsTer10 | |
| NM_001322014.2:c.2554del | NP_001308943.1:p.Trp852GlyfsTer10 | |
| NM_001322015.2:c.2212del | NP_001308944.1:p.Trp738GlyfsTer10 | |
| NM_001322007.2:c.2203del | NP_001308936.1:p.Trp735GlyfsTer10 |