Linked Data
ClinVar Variation Id:
1566167
ClinVar RCV Id:
RCV002207283
dbSNP Id:
rs752597509
ExAC:
7:94228294 AAAC / A
gnomAD v2:
7-94228294-AAAC-A
gnomAD v4:
7-94598982-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94598987_94598989del , CM000669.2:g.94598987_94598989del | GRCh38 |
| NC_000007.13:g.94228299_94228301del , CM000669.1:g.94228299_94228301del | GRCh37 |
| NC_000007.12:g.94066235_94066237del | NCBI36 |
| NG_008893.1:g.62225_62227del | |
| NG_008893.2:g.62225_62227del | |
| NG_008893.3:g.62588_62590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1173-22_1173-20del (SGCE) | ENSP00000405313.2:n.1173-22_1173-20del | |
| ENST00000428696.7:c.1017-22_1017-20del (SGCE) | ENSP00000397536.3:n.1017-22_1017-20del | |
| ENST00000437425.7:c.942-22_942-20del (SGCE) | ENSP00000394061.2:n.942-22_942-20del | |
| ENST00000445866.7:c.1065-22_1065-20del (SGCE) | ENSP00000398930.2:n.1065-22_1065-20del | |
| ENST00000447873.6:c.1038-22_1038-20del (SGCE) | ENSP00000388734.1:n.1038-22_1038-20del | |
| ENST00000642169.1:c.*447-22_*447-20del (SGCE) | ENSP00000496346.1:n.*447-22_*447-20del | |
| ENST00000642291.1:c.1000-22_1000-20del (SGCE) | ||
| ENST00000642353.1:n.1036-22_1036-20del (SGCE) | ||
| ENST00000642394.1:c.915-22_915-20del (SGCE) | ENSP00000493751.1:n.915-22_915-20del | |
| ENST00000642441.1:c.1119-22_1119-20del (SGCE) | ENSP00000495994.1:n.1119-22_1119-20del | |
| ENST00000642497.1:n.1811-22_1811-20del (SGCE) | ||
| ENST00000642564.1:n.1165-22_1165-20del (SGCE) | ||
| ENST00000642638.1:c.*1103-22_*1103-20del (SGCE) | ENSP00000495555.1:n.*1103-22_*1103-20del | |
| ENST00000642707.1:c.1146-22_1146-20del (SGCE) | ENSP00000495270.1:n.1146-22_1146-20del | |
| ENST00000642754.1:n.5937-22_5937-20del (SGCE) | ||
| ENST00000642759.1:n.1127-22_1127-20del (SGCE) | ||
| ENST00000642802.1:n.860-22_860-20del (SGCE) | ||
| ENST00000642904.1:n.1126-22_1126-20del (SGCE) | ||
| ENST00000642933.1:c.1038-22_1038-20del (SGCE) | ENSP00000496237.1:n.1038-22_1038-20del | |
| ENST00000643020.1:c.991-22_991-20del (SGCE) | ||
| ENST00000643041.1:c.*26-22_*26-20del (SGCE) | ENSP00000495311.1:n.*26-22_*26-20del | |
| ENST00000643128.1:c.1065-22_1065-20del (SGCE) | ENSP00000496678.1:n.1065-22_1065-20del | |
| ENST00000643160.1:c.296-22_296-20del (SGCE) | ||
| ENST00000643193.1:c.1038-22_1038-20del (SGCE) | ENSP00000496559.1:n.1038-22_1038-20del | |
| ENST00000643206.1:c.*646-22_*646-20del (SGCE) | ENSP00000496172.1:n.*646-22_*646-20del | |
| ENST00000643272.1:c.1146-22_1146-20del (SGCE) | ENSP00000494488.1:n.1146-22_1146-20del | |
| ENST00000643324.1:n.1956-22_1956-20del (SGCE) | ||
| ENST00000643491.1:n.966-22_966-20del (SGCE) | ||
| ENST00000643568.1:c.719-22_719-20del (SGCE) | ||
| ENST00000643605.1:c.*1025-22_*1025-20del (SGCE) | ENSP00000496480.1:n.*1025-22_*1025-20del | |
| ENST00000643610.1:c.1065-22_1065-20del (SGCE) | ENSP00000494350.1:n.1065-22_1065-20del | |
| ENST00000643714.1:n.1106-22_1106-20del (SGCE) | ||
| ENST00000643903.1:c.1038-22_1038-20del (SGCE) | ENSP00000495165.1:n.1038-22_1038-20del | |
| ENST00000643991.1:c.947-22_947-20del (SGCE) | ||
| ENST00000644087.1:c.*1115-22_*1115-20del (SGCE) | ENSP00000495249.1:n.*1115-22_*1115-20del | |
| ENST00000644116.1:c.1038-22_1038-20del (SGCE) | ENSP00000495276.1:n.1038-22_1038-20del | |
| ENST00000644122.1:c.1146-22_1146-20del (SGCE) | ENSP00000495236.1:n.1146-22_1146-20del | |
| ENST00000644268.1:n.1658-22_1658-20del (SGCE) | ||
| ENST00000644373.1:n.2074-22_2074-20del (SGCE) | ||
| ENST00000644375.1:c.1104-22_1104-20del (SGCE) | ENSP00000494315.1:n.1104-22_1104-20del | |
| ENST00000644533.1:n.1820-22_1820-20del (SGCE) | ||
| ENST00000644551.1:c.1146-22_1146-20del (SGCE) | ENSP00000493981.1:n.1146-22_1146-20del | |
| ENST00000644609.1:c.1038-22_1038-20del (SGCE) | ENSP00000496045.1:n.1038-22_1038-20del | |
| ENST00000644639.1:c.*699-22_*699-20del (SGCE) | ENSP00000496391.1:n.*699-22_*699-20del | |
| ENST00000644658.1:c.417-22_417-20del (SGCE) | ||
| ENST00000644674.1:n.966-22_966-20del (SGCE) | ||
| ENST00000644681.1:c.765-22_765-20del (SGCE) | ENSP00000496455.1:n.765-22_765-20del | |
| ENST00000644682.1:c.1102-22_1102-20del (SGCE) | ||
| ENST00000644816.1:c.1065-22_1065-20del (SGCE) | ENSP00000494898.1:n.1065-22_1065-20del | |
| ENST00000645101.1:c.1227-22_1227-20del (SGCE) | ENSP00000494975.1:n.1227-22_1227-20del | |
| ENST00000645109.1:c.1173-22_1173-20del (SGCE) | ENSP00000495931.1:n.1173-22_1173-20del | |
| ENST00000645262.1:c.915-22_915-20del (SGCE) | ENSP00000494164.1:n.915-22_915-20del | |
| ENST00000645445.1:c.1012-22_1012-20del (SGCE) | ||
| ENST00000645535.1:c.765-22_765-20del (SGCE) | ENSP00000493984.1:n.765-22_765-20del | |
| ENST00000645579.1:n.1958-22_1958-20del (SGCE) | ||
| ENST00000645624.1:n.601-22_601-20del (SGCE) | ||
| ENST00000645665.1:n.284-22_284-20del (SGCE) | ||
| ENST00000645725.1:c.1119-22_1119-20del (SGCE) | ENSP00000495480.1:n.1119-22_1119-20del | |
| ENST00000645804.1:c.56+712_56+714del (SGCE) | ENSP00000494688.1:n.56+712_56+714del | |
| ENST00000646098.1:c.1041-22_1041-20del (SGCE) | ENSP00000495591.1:n.1041-22_1041-20del | |
| ENST00000646119.1:c.1039-22_1039-20del (SGCE) | ||
| ENST00000646137.1:c.1038-22_1038-20del (SGCE) | ENSP00000495199.1:n.1038-22_1038-20del | |
| ENST00000646265.1:c.1127-22_1127-20del (SGCE) | ||
| ENST00000646301.1:c.1011-22_1011-20del (SGCE) | ||
| ENST00000646434.1:c.1287-22_1287-20del (SGCE) | ||
| ENST00000646466.1:c.*968-22_*968-20del (SGCE) | ENSP00000493511.1:n.*968-22_*968-20del | |
| ENST00000646489.1:c.1173-22_1173-20del (SGCE) | ENSP00000496268.1:n.1173-22_1173-20del | |
| ENST00000646559.1:c.*995-22_*995-20del (SGCE) | ENSP00000495838.1:n.*995-22_*995-20del | |
| ENST00000646600.1:c.*968-22_*968-20del (SGCE) | ENSP00000494041.1:n.*968-22_*968-20del | |
| ENST00000646682.1:c.*673-22_*673-20del (SGCE) | ENSP00000496461.1:n.*673-22_*673-20del | |
| ENST00000646879.1:c.1038-22_1038-20del (SGCE) | ENSP00000495209.1:n.1038-22_1038-20del | |
| ENST00000646910.1:n.1098-22_1098-20del (SGCE) | ||
| ENST00000646943.1:c.1065-22_1065-20del (SGCE) | ENSP00000494666.1:n.1065-22_1065-20del | |
| ENST00000647018.1:c.1173-22_1173-20del (SGCE) | ENSP00000493722.1:n.1173-22_1173-20del | |
| ENST00000647031.1:n.3652-22_3652-20del (SGCE) | ||
| ENST00000647048.1:c.862-22_862-20del (SGCE) | ||
| ENST00000647096.1:c.1173-22_1173-20del (SGCE) | ENSP00000494192.1:n.1173-22_1173-20del | |
| ENST00000647110.1:c.1044-22_1044-20del (SGCE) | ENSP00000494738.1:n.1044-22_1044-20del | |
| ENST00000647334.1:c.1144-22_1144-20del (SGCE) | ||
| ENST00000647351.1:c.1146-22_1146-20del (SGCE) | ENSP00000494556.1:n.1146-22_1146-20del | |
| ENST00000647379.1:n.278-22_278-20del (SGCE) | ||
| ENST00000647533.1:n.2686-22_2686-20del (SGCE) | ||
| ENST00000648936.2:c.1065-22_1065-20del (SGCE) MANE Select | ENSP00000497130.1:n.1065-22_1065-20del | |
| ENST00000265735.11:c.1065-22_1065-20del (SGCE) | ENSP00000265735.6:n.1065-22_1065-20del | |
| ENST00000415788.2:c.1173-22_1173-20del (SGCE) | ENSP00000405313.2:n.1173-22_1173-20del | |
| ENST00000428696.6:c.1038-22_1038-20del (SGCE) | ENSP00000397536.2:n.1038-22_1038-20del | |
| ENST00000437425.6:c.942-22_942-20del (SGCE) | ENSP00000394061.2:n.942-22_942-20del | |
| ENST00000445866.6:c.1065-22_1065-20del (SGCE) | ENSP00000398930.2:n.1065-22_1065-20del | |
| ENST00000447873.5:c.1038-22_1038-20del (SGCE) | ENSP00000388734.1:n.1038-22_1038-20del | |
| ENST00000472326.2:n.153_155del (SGCE) | ||
| ENST00000522045.5:c.122+712_122+714del (SGCE) | ENSP00000431080.1:n.122+712_122+714del | |
| NM_001099400.1:c.1038-22_1038-20del (SGCE) | NP_001092870.1:n.1038-22_1038-20del | |
| NM_001099401.1:c.1065-22_1065-20del (SGCE) | NP_001092871.1:n.1065-22_1065-20del | |
| NM_001301139.1:c.942-22_942-20del (SGCE) | NP_001288068.1:n.942-22_942-20del | |
| NM_003919.2:c.1065-22_1065-20del (SGCE) | NP_003910.1:n.1065-22_1065-20del | |
| XM_005250675.3:c.1173-22_1173-20del (SGCE) | XP_005250732.1:n.1173-22_1173-20del | |
| XM_005250677.3:c.1146-22_1146-20del (SGCE) | XP_005250734.1:n.1146-22_1146-20del | |
| XM_011516495.1:c.2128-32329_2128-32327del (CASD1) | XP_011514797.1:n.2128-32329_2128-32327del | |
| XM_011516663.1:c.1173-22_1173-20del (SGCE) | XP_011514965.1:n.1173-22_1173-20del | |
| XM_011516664.1:c.1146-22_1146-20del (SGCE) | XP_011514966.1:n.1146-22_1146-20del | |
| XM_011516665.1:c.1065-22_1065-20del (SGCE) | XP_011514967.1:n.1065-22_1065-20del | |
| XM_011516666.1:c.1038-22_1038-20del (SGCE) | XP_011514968.1:n.1038-22_1038-20del | |
| XM_011516667.1:c.978-22_978-20del (SGCE) | XP_011514969.1:n.978-22_978-20del | |
| XM_011516668.1:c.942-22_942-20del (SGCE) | XP_011514970.1:n.942-22_942-20del | |
| XM_011516669.1:c.792-22_792-20del (SGCE) | XP_011514971.1:n.792-22_792-20del | |
| NM_001346713.1:c.1173-22_1173-20del (SGCE) | NP_001333642.1:n.1173-22_1173-20del | |
| NM_001346715.1:c.1146-22_1146-20del (SGCE) | NP_001333644.1:n.1146-22_1146-20del | |
| NM_001346717.1:c.1038-22_1038-20del (SGCE) | NP_001333646.1:n.1038-22_1038-20del | |
| NM_001346719.1:c.978-22_978-20del (SGCE) | NP_001333648.1:n.978-22_978-20del | |
| NM_001346720.1:c.792-22_792-20del (SGCE) | NP_001333649.1:n.792-22_792-20del | |
| NM_001362807.1:c.951-22_951-20del (SGCE) | NP_001349736.1:n.951-22_951-20del | |
| NM_001362808.1:c.765-22_765-20del (SGCE) | NP_001349737.1:n.765-22_765-20del | |
| NM_001362809.1:c.915-22_915-20del (SGCE) | NP_001349738.1:n.915-22_915-20del | |
| XM_011516495.2:c.2128-32329_2128-32327del (CASD1) | XP_011514797.1:n.2128-32329_2128-32327del | |
| XM_011516663.2:c.1173-22_1173-20del (SGCE) | XP_011514965.1:n.1173-22_1173-20del | |
| XM_011516664.2:c.1146-22_1146-20del (SGCE) | XP_011514966.1:n.1146-22_1146-20del | |
| XM_011516665.3:c.1065-22_1065-20del (SGCE) | XP_011514967.1:n.1065-22_1065-20del | |
| XM_011516666.3:c.1038-22_1038-20del (SGCE) | XP_011514968.1:n.1038-22_1038-20del | |
| XM_011516667.2:c.978-22_978-20del (SGCE) | XP_011514969.1:n.978-22_978-20del | |
| XM_011516669.3:c.792-22_792-20del (SGCE) | XP_011514971.1:n.792-22_792-20del | |
| XM_017012763.1:c.978-22_978-20del (SGCE) | XP_016868252.1:n.978-22_978-20del | |
| XM_017012767.1:c.765-22_765-20del (SGCE) | XP_016868256.1:n.765-22_765-20del | |
| XM_024446985.1:c.942-22_942-20del (SGCE) | XP_024302753.1:n.942-22_942-20del | |
| XM_024446986.1:c.915-22_915-20del (SGCE) | XP_024302754.1:n.915-22_915-20del | |
| NM_001099400.2:c.1038-22_1038-20del (SGCE) | NP_001092870.1:n.1038-22_1038-20del | |
| NM_001099401.2:c.1065-22_1065-20del (SGCE) | NP_001092871.1:n.1065-22_1065-20del | |
| NM_001301139.2:c.942-22_942-20del (SGCE) | NP_001288068.1:n.942-22_942-20del | |
| NM_001346713.2:c.1173-22_1173-20del (SGCE) | NP_001333642.1:n.1173-22_1173-20del | |
| NM_001346715.2:c.1146-22_1146-20del (SGCE) | NP_001333644.1:n.1146-22_1146-20del | |
| NM_001346717.2:c.1038-22_1038-20del (SGCE) | NP_001333646.1:n.1038-22_1038-20del | |
| NM_001346719.2:c.978-22_978-20del (SGCE) | NP_001333648.1:n.978-22_978-20del | |
| NM_001346720.2:c.792-22_792-20del (SGCE) | NP_001333649.1:n.792-22_792-20del | |
| NM_001362807.2:c.951-22_951-20del (SGCE) | NP_001349736.1:n.951-22_951-20del | |
| NM_001362808.2:c.765-22_765-20del (SGCE) | NP_001349737.1:n.765-22_765-20del | |
| NM_001362809.2:c.915-22_915-20del (SGCE) | NP_001349738.1:n.915-22_915-20del | |
| NM_003919.3:c.1065-22_1065-20del (SGCE) MANE Select | NP_003910.1:n.1065-22_1065-20del |