Linked Data
ClinVar Variation Id:
91331
ClinVar RCV Id:
RCV000076846
RCV000163763
RCV000524460
RCV000486374
RCV000662653
RCV001535560
RCV003992178
dbSNP Id:
rs63750695
ExAC:
7:6018305 CAGTTA / C
gnomAD v2:
7-6018305-CAGTTA-C
gnomAD v3:
7-5978674-CAGTTA-C
gnomAD v4:
7-5978674-CAGTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5978679_5978683del , CM000669.2:g.5978679_5978683del | GRCh38 |
| NC_000007.13:g.6018310_6018314del , CM000669.1:g.6018310_6018314del | GRCh37 |
| NC_000007.12:g.5984836_5984840del | NCBI36 |
| NG_008466.1:g.35428_35432del , LRG_161:g.35428_35432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1588_*1592del | ENSP00000514615.2:n.*1588_*1592del | |
| ENST00000699840.2:c.2189_2193del | ENSP00000514638.2:p.Leu730CysfsTer3 | |
| ENST00000699930.2:c.2084_2088del | ENSP00000514695.2:p.Leu695CysfsTer3 | |
| ENST00000406569.8:c.1679-965_1679-961del | ENSP00000514464.1:n.1679-965_1679-961del | |
| ENST00000644110.2:c.*1786_*1790del | ENSP00000496392.2:n.*1786_*1790del | |
| ENST00000699752.1:c.2036_2040del | ENSP00000514561.1:p.Leu679CysfsTer3 | |
| ENST00000699753.1:c.*1613_*1617del | ENSP00000514562.1:n.*1613_*1617del | |
| ENST00000699754.1:c.1994_1998del | ENSP00000514563.1:p.Leu665CysfsTer3 | |
| ENST00000699755.1:c.*1591_*1595del | ENSP00000514564.1:n.*1591_*1595del | |
| ENST00000699756.1:c.*1779_*1783del | ENSP00000514565.1:n.*1779_*1783del | |
| ENST00000699757.1:c.*1449_*1453del | ENSP00000514566.1:n.*1449_*1453del | |
| ENST00000699758.1:c.*1449_*1453del | ENSP00000514567.1:n.*1449_*1453del | |
| ENST00000699759.1:n.3046_3050del | ||
| ENST00000699760.1:c.1874_1878del | ENSP00000514568.1:p.Leu625CysfsTer3 | |
| ENST00000699761.1:c.1787_1791del | ENSP00000514569.1:p.Leu596CysfsTer3 | |
| ENST00000699762.1:c.1619_1623del | ENSP00000514570.1:p.Leu540CysfsTer3 | |
| ENST00000699763.1:c.*1282_*1286del | ENSP00000514571.1:n.*1282_*1286del | |
| ENST00000699764.1:c.*510_*514del | ENSP00000514572.1:n.*510_*514del | |
| ENST00000699765.1:c.*1271-922_*1271-918del | ENSP00000514573.1:n.*1271-922_*1271-918del | |
| ENST00000699766.1:c.2192_2196del | ENSP00000514574.1:p.Leu731CysfsTer3 | |
| ENST00000699767.1:c.2192_2196del | ENSP00000514575.1:p.Leu731CysfsTer3 | |
| ENST00000699768.1:c.2175-965_2175-961del | ENSP00000514576.1:n.2175-965_2175-961del | |
| ENST00000699811.1:c.1787_1791del | ENSP00000514614.1:p.Leu596CysfsTer3 | |
| ENST00000699813.1:n.2305_2309del | ||
| ENST00000699814.1:c.1815_1819del | ||
| ENST00000699815.1:c.*1723_*1727del | ENSP00000514616.1:n.*1723_*1727del | |
| ENST00000699816.1:c.*1082_*1086del | ENSP00000514617.1:n.*1082_*1086del | |
| ENST00000699817.1:c.*1786_*1790del | ENSP00000514618.1:n.*1786_*1790del | |
| ENST00000699818.1:c.1787_1791del | ENSP00000514619.1:p.Leu596CysfsTer3 | |
| ENST00000699819.1:c.*1349_*1353del | ENSP00000514620.1:n.*1349_*1353del | |
| ENST00000699820.1:c.*130_*134del | ENSP00000514621.1:n.*130_*134del | |
| ENST00000699821.1:c.1787_1791del | ENSP00000514622.1:p.Leu596CysfsTer3 | |
| ENST00000699822.1:c.*1644_*1648del | ENSP00000514623.1:n.*1644_*1648del | |
| ENST00000699823.1:c.1787_1791del | ENSP00000514624.1:p.Leu596CysfsTer3 | |
| ENST00000699824.1:c.*1695_*1699del | ENSP00000514625.1:n.*1695_*1699del | |
| ENST00000699825.1:c.1631_1635del | ENSP00000514626.1:p.Leu544CysfsTer3 | |
| ENST00000699826.1:c.*1591_*1595del | ENSP00000514627.1:n.*1591_*1595del | |
| ENST00000699827.1:c.2024_2028del | ENSP00000514628.1:p.Leu675CysfsTer3 | |
| ENST00000699828.1:c.*1282_*1286del | ENSP00000514629.1:n.*1282_*1286del | |
| ENST00000699833.1:n.3964_3968del | ||
| ENST00000699837.1:c.1787_1791del | ENSP00000514635.1:p.Leu596CysfsTer3 | |
| ENST00000699838.1:c.*2092_*2096del | ENSP00000514636.1:n.*2092_*2096del | |
| ENST00000699839.1:c.2378_2382del | ENSP00000514637.1:p.Leu793CysfsTer3 | |
| ENST00000699916.1:c.*1449_*1453del | ENSP00000514684.1:n.*1449_*1453del | |
| ENST00000699917.1:c.*1641_*1645del | ENSP00000514685.1:n.*1641_*1645del | |
| ENST00000699918.1:c.*1693_*1697del | ENSP00000514686.1:n.*1693_*1697del | |
| ENST00000699919.1:c.*1779_*1783del | ENSP00000514687.1:n.*1779_*1783del | |
| ENST00000699920.1:c.*1828_*1832del | ENSP00000514688.1:n.*1828_*1832del | |
| ENST00000699928.1:c.*130_*134del | ENSP00000514693.1:n.*130_*134del | |
| ENST00000699951.1:c.*1288_*1292del | ENSP00000514706.1:n.*1288_*1292del | |
| ENST00000699952.1:c.804-5137_804-5133del | ENSP00000514707.1:n.804-5137_804-5133del | |
| ENST00000265849.12:c.2192_2196del MANE Select | ENSP00000265849.7:p.Leu731CysfsTer3 | |
| ENST00000642292.1:c.1787_1791del | ENSP00000495524.1:p.Leu596CysfsTer3 | |
| ENST00000642456.1:c.1787_1791del | ENSP00000493814.1:p.Leu596CysfsTer3 | |
| ENST00000643595.1:c.*1591_*1595del | ENSP00000494497.1:n.*1591_*1595del | |
| ENST00000644110.1:c.1874_1878del | ENSP00000496392.1:p.Leu625CysfsTer3 | |
| ENST00000265849.11:c.2192_2196del | ENSP00000265849.7:p.Leu731CysfsTer3 | |
| ENST00000382321.5:c.989_993del | ENSP00000371758.4:p.Leu330CysfsTer3 | |
| ENST00000406569.7:n.1679-965_1679-961del | ||
| ENST00000441476.6:c.1874_1878del | ENSP00000392843.2:p.Leu625CysfsTer3 | |
| NM_000535.5:c.2192_2196del , LRG_161t1:c.2192_2196del | NP_000526.1:p.Leu731CysfsTer3 | |
| NR_003085.2:n.2274_2278del | ||
| XM_006715742.2:c.2186_2190del | XP_006715805.1:p.Leu729CysfsTer3 | |
| XM_006715744.2:c.1259_1263del | XP_006715807.1:p.Leu420CysfsTer3 | |
| XM_011515427.1:c.2237_2241del | XP_011513729.1:p.Leu746CysfsTer3 | |
| XM_011515428.1:c.2081_2085del | XP_011513730.1:p.Leu694CysfsTer3 | |
| XM_011515429.1:c.1874_1878del | XP_011513731.1:p.Leu625CysfsTer3 | |
| XM_011515430.1:c.1874_1878del | XP_011513732.1:p.Leu625CysfsTer3 | |
| NM_000535.6:c.2192_2196del | NP_000526.2:p.Leu731CysfsTer3 | |
| NM_001322003.1:c.1787_1791del | NP_001308932.1:p.Leu596CysfsTer3 | |
| NM_001322004.1:c.1787_1791del | NP_001308933.1:p.Leu596CysfsTer3 | |
| NM_001322005.1:c.1787_1791del | NP_001308934.1:p.Leu596CysfsTer3 | |
| NM_001322006.1:c.2036_2040del | NP_001308935.1:p.Leu679CysfsTer3 | |
| NM_001322007.1:c.1874_1878del | NP_001308936.1:p.Leu625CysfsTer3 | |
| NM_001322008.1:c.1874_1878del | NP_001308937.1:p.Leu625CysfsTer3 | |
| NM_001322009.1:c.1787_1791del | NP_001308938.1:p.Leu596CysfsTer3 | |
| NM_001322010.1:c.1631_1635del | NP_001308939.1:p.Leu544CysfsTer3 | |
| NM_001322011.1:c.1259_1263del | NP_001308940.1:p.Leu420CysfsTer3 | |
| NM_001322012.1:c.1259_1263del | NP_001308941.1:p.Leu420CysfsTer3 | |
| NM_001322013.1:c.1619_1623del | NP_001308942.1:p.Leu540CysfsTer3 | |
| NM_001322014.1:c.2192_2196del | NP_001308943.1:p.Leu731CysfsTer3 | |
| NM_001322015.1:c.1883_1887del | NP_001308944.1:p.Leu628CysfsTer3 | |
| NR_136154.1:n.2279_2283del | ||
| XM_006715744.4:c.1259_1263del | XP_006715807.1:p.Leu420CysfsTer3 | |
| XM_017012342.2:c.1259_1263del | XP_016867831.1:p.Leu420CysfsTer3 | |
| XM_024446800.1:c.1631_1635del | XP_024302568.1:p.Leu544CysfsTer3 | |
| NM_000535.7:c.2192_2196del MANE Select | NP_000526.2:p.Leu731CysfsTer3 | |
| NM_001322003.2:c.1787_1791del | NP_001308932.1:p.Leu596CysfsTer3 | |
| NM_001322004.2:c.1787_1791del | NP_001308933.1:p.Leu596CysfsTer3 | |
| NM_001322005.2:c.1787_1791del | NP_001308934.1:p.Leu596CysfsTer3 | |
| NM_001322006.2:c.2036_2040del | NP_001308935.1:p.Leu679CysfsTer3 | |
| NM_001322008.2:c.1874_1878del | NP_001308937.1:p.Leu625CysfsTer3 | |
| NM_001322009.2:c.1787_1791del | NP_001308938.1:p.Leu596CysfsTer3 | |
| NM_001322010.2:c.1631_1635del | NP_001308939.1:p.Leu544CysfsTer3 | |
| NM_001322011.2:c.1259_1263del | NP_001308940.1:p.Leu420CysfsTer3 | |
| NM_001322012.2:c.1259_1263del | NP_001308941.1:p.Leu420CysfsTer3 | |
| NM_001322013.2:c.1619_1623del | NP_001308942.1:p.Leu540CysfsTer3 | |
| NM_001322014.2:c.2192_2196del | NP_001308943.1:p.Leu731CysfsTer3 | |
| NM_001322015.2:c.1883_1887del | NP_001308944.1:p.Leu628CysfsTer3 | |
| NM_001322007.2:c.1874_1878del | NP_001308936.1:p.Leu625CysfsTer3 |