Linked Data
ClinVar Variation Id:
91338
ClinVar RCV Id:
RCV003452991
dbSNP Id:
rs267608160
gnomAD v4:
7-5977668-TGAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977669_5977672del , CM000669.2:g.5977669_5977672del | GRCh38 |
| NC_000007.13:g.6017300_6017303del , CM000669.1:g.6017300_6017303del | GRCh37 |
| NC_000007.12:g.5983826_5983829del | NCBI36 |
| NG_008466.1:g.36435_36438del , LRG_161:g.36435_36438del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1757_*1760del | ENSP00000514615.2:n.*1757_*1760del | |
| ENST00000699840.2:c.2358_2361del | ENSP00000514638.2:p.Phe787CysfsTer2 | |
| ENST00000699930.2:c.2253_2256del | ENSP00000514695.2:p.Phe752CysfsTer2 | |
| ENST00000406569.8:c.1721_1724del | ENSP00000514464.1:n.1721_1724del | |
| ENST00000644110.2:c.*1955_*1958del | ENSP00000496392.2:n.*1955_*1958del | |
| ENST00000699752.1:c.2205_2208del | ENSP00000514561.1:p.Phe736CysfsTer2 | |
| ENST00000699753.1:c.*1782_*1785del | ENSP00000514562.1:n.*1782_*1785del | |
| ENST00000699754.1:c.2163_2166del | ENSP00000514563.1:p.Phe722CysfsTer2 | |
| ENST00000699755.1:c.*1760_*1763del | ENSP00000514564.1:n.*1760_*1763del | |
| ENST00000699756.1:c.*1948_*1951del | ENSP00000514565.1:n.*1948_*1951del | |
| ENST00000699757.1:c.*1618_*1621del | ENSP00000514566.1:n.*1618_*1621del | |
| ENST00000699758.1:c.*1618_*1621del | ENSP00000514567.1:n.*1618_*1621del | |
| ENST00000699759.1:n.3215_3218del | ||
| ENST00000699760.1:c.2043_2046del | ENSP00000514568.1:p.Phe682CysfsTer2 | |
| ENST00000699761.1:c.1956_1959del | ENSP00000514569.1:p.Phe653CysfsTer2 | |
| ENST00000699762.1:c.1788_1791del | ENSP00000514570.1:p.Phe597CysfsTer2 | |
| ENST00000699763.1:c.*1451_*1454del | ENSP00000514571.1:n.*1451_*1454del | |
| ENST00000699764.1:c.*679_*682del | ENSP00000514572.1:n.*679_*682del | |
| ENST00000699765.1:c.*1356_*1359del | ENSP00000514573.1:n.*1356_*1359del | |
| ENST00000699766.1:c.2394_2397del | ENSP00000514574.1:p.Phe799CysfsTer2 | |
| ENST00000699767.1:c.*2_*5del | ENSP00000514575.1:n.*2_*5del | |
| ENST00000699768.1:c.2217_2220del | ENSP00000514576.1:p.Phe740CysfsTer2 | |
| ENST00000699811.1:c.1956_1959del | ENSP00000514614.1:p.Phe653CysfsTer2 | |
| ENST00000699813.1:n.2474_2477del | ||
| ENST00000699814.1:c.1984_1987del | ||
| ENST00000699815.1:c.*1892_*1895del | ENSP00000514616.1:n.*1892_*1895del | |
| ENST00000699816.1:c.*1251_*1254del | ENSP00000514617.1:n.*1251_*1254del | |
| ENST00000699817.1:c.*1955_*1958del | ENSP00000514618.1:n.*1955_*1958del | |
| ENST00000699818.1:c.1956_1959del | ENSP00000514619.1:p.Phe653CysfsTer2 | |
| ENST00000699819.1:c.*1518_*1521del | ENSP00000514620.1:n.*1518_*1521del | |
| ENST00000699820.1:c.*299_*302del | ENSP00000514621.1:n.*299_*302del | |
| ENST00000699821.1:c.1989_1992del | ENSP00000514622.1:p.Phe664CysfsTer2 | |
| ENST00000699822.1:c.*1813_*1816del | ENSP00000514623.1:n.*1813_*1816del | |
| ENST00000699823.1:c.1956_1959del | ENSP00000514624.1:p.Phe653CysfsTer2 | |
| ENST00000699824.1:c.*1864_*1867del | ENSP00000514625.1:n.*1864_*1867del | |
| ENST00000699825.1:c.1800_1803del | ENSP00000514626.1:p.Phe601CysfsTer2 | |
| ENST00000699826.1:c.*1760_*1763del | ENSP00000514627.1:n.*1760_*1763del | |
| ENST00000699827.1:c.2193_2196del | ENSP00000514628.1:p.Phe732CysfsTer2 | |
| ENST00000699828.1:c.*1451_*1454del | ENSP00000514629.1:n.*1451_*1454del | |
| ENST00000699833.1:n.4133_4136del | ||
| ENST00000699837.1:c.1956_1959del | ENSP00000514635.1:p.Phe653CysfsTer2 | |
| ENST00000699838.1:c.*2261_*2264del | ENSP00000514636.1:n.*2261_*2264del | |
| ENST00000699839.1:c.2547_2550del | ENSP00000514637.1:p.Phe850CysfsTer2 | |
| ENST00000699916.1:c.*1618_*1621del | ENSP00000514684.1:n.*1618_*1621del | |
| ENST00000699917.1:c.*1810_*1813del | ENSP00000514685.1:n.*1810_*1813del | |
| ENST00000699918.1:c.*1862_*1865del | ENSP00000514686.1:n.*1862_*1865del | |
| ENST00000699919.1:c.*1948_*1951del | ENSP00000514687.1:n.*1948_*1951del | |
| ENST00000699920.1:c.*1997_*2000del | ENSP00000514688.1:n.*1997_*2000del | |
| ENST00000699928.1:c.*299_*302del | ENSP00000514693.1:n.*299_*302del | |
| ENST00000699951.1:c.*1414_*1417del | ENSP00000514706.1:n.*1414_*1417del | |
| ENST00000699952.1:c.804-4130_804-4127del | ENSP00000514707.1:n.804-4130_804-4127del | |
| ENST00000265849.12:c.2361_2364del MANE Select | ENSP00000265849.7:p.Phe788CysfsTer2 | |
| ENST00000642292.1:c.1956_1959del | ENSP00000495524.1:p.Phe653CysfsTer2 | |
| ENST00000642456.1:c.1956_1959del | ENSP00000493814.1:p.Phe653CysfsTer2 | |
| ENST00000643595.1:c.*1760_*1763del | ENSP00000494497.1:n.*1760_*1763del | |
| ENST00000644110.1:c.2043_2046del | ENSP00000496392.1:p.Phe682CysfsTer2 | |
| ENST00000265849.11:c.2361_2364del | ENSP00000265849.7:p.Phe788CysfsTer2 | |
| ENST00000382321.5:c.1158_1161del | ENSP00000371758.4:p.Phe387CysfsTer2 | |
| ENST00000441476.6:c.2043_2046del | ENSP00000392843.2:p.Phe682CysfsTer2 | |
| NM_000535.5:c.2361_2364del , LRG_161t1:c.2361_2364del | NP_000526.1:p.Phe788CysfsTer2 | |
| NR_003085.2:n.2443_2446del | ||
| XM_006715742.2:c.2355_2358del | XP_006715805.1:p.Phe786CysfsTer2 | |
| XM_006715744.2:c.1428_1431del | XP_006715807.1:p.Phe477CysfsTer2 | |
| XM_011515427.1:c.2406_2409del | XP_011513729.1:p.Phe803CysfsTer2 | |
| XM_011515428.1:c.2250_2253del | XP_011513730.1:p.Phe751CysfsTer2 | |
| XM_011515429.1:c.2043_2046del | XP_011513731.1:p.Phe682CysfsTer2 | |
| XM_011515430.1:c.2043_2046del | XP_011513732.1:p.Phe682CysfsTer2 | |
| NM_000535.6:c.2361_2364del | NP_000526.2:p.Phe788CysfsTer2 | |
| NM_001322003.1:c.1956_1959del | NP_001308932.1:p.Phe653CysfsTer2 | |
| NM_001322004.1:c.1956_1959del | NP_001308933.1:p.Phe653CysfsTer2 | |
| NM_001322005.1:c.1956_1959del | NP_001308934.1:p.Phe653CysfsTer2 | |
| NM_001322006.1:c.2205_2208del | NP_001308935.1:p.Phe736CysfsTer2 | |
| NM_001322007.1:c.2043_2046del | NP_001308936.1:p.Phe682CysfsTer2 | |
| NM_001322008.1:c.2043_2046del | NP_001308937.1:p.Phe682CysfsTer2 | |
| NM_001322009.1:c.1989_1992del | NP_001308938.1:p.Phe664CysfsTer2 | |
| NM_001322010.1:c.1800_1803del | NP_001308939.1:p.Phe601CysfsTer2 | |
| NM_001322011.1:c.1428_1431del | NP_001308940.1:p.Phe477CysfsTer2 | |
| NM_001322012.1:c.1428_1431del | NP_001308941.1:p.Phe477CysfsTer2 | |
| NM_001322013.1:c.1788_1791del | NP_001308942.1:p.Phe597CysfsTer2 | |
| NM_001322014.1:c.2394_2397del | NP_001308943.1:p.Phe799CysfsTer2 | |
| NM_001322015.1:c.2052_2055del | NP_001308944.1:p.Phe685CysfsTer2 | |
| NR_136154.1:n.2405_2408del | ||
| XM_006715744.4:c.1428_1431del | XP_006715807.1:p.Phe477CysfsTer2 | |
| XM_017012342.2:c.1428_1431del | XP_016867831.1:p.Phe477CysfsTer2 | |
| XM_024446800.1:c.1800_1803del | XP_024302568.1:p.Phe601CysfsTer2 | |
| NM_000535.7:c.2361_2364del MANE Select | NP_000526.2:p.Phe788CysfsTer2 | |
| NM_001322003.2:c.1956_1959del | NP_001308932.1:p.Phe653CysfsTer2 | |
| NM_001322004.2:c.1956_1959del | NP_001308933.1:p.Phe653CysfsTer2 | |
| NM_001322005.2:c.1956_1959del | NP_001308934.1:p.Phe653CysfsTer2 | |
| NM_001322006.2:c.2205_2208del | NP_001308935.1:p.Phe736CysfsTer2 | |
| NM_001322008.2:c.2043_2046del | NP_001308937.1:p.Phe682CysfsTer2 | |
| NM_001322009.2:c.1989_1992del | NP_001308938.1:p.Phe664CysfsTer2 | |
| NM_001322010.2:c.1800_1803del | NP_001308939.1:p.Phe601CysfsTer2 | |
| NM_001322011.2:c.1428_1431del | NP_001308940.1:p.Phe477CysfsTer2 | |
| NM_001322012.2:c.1428_1431del | NP_001308941.1:p.Phe477CysfsTer2 | |
| NM_001322013.2:c.1788_1791del | NP_001308942.1:p.Phe597CysfsTer2 | |
| NM_001322014.2:c.2394_2397del | NP_001308943.1:p.Phe799CysfsTer2 | |
| NM_001322015.2:c.2052_2055del | NP_001308944.1:p.Phe685CysfsTer2 | |
| NM_001322007.2:c.2043_2046del | NP_001308936.1:p.Phe682CysfsTer2 |