Linked Data
ClinVar Variation Id:
198162
dbSNP Id:
rs794727794
gnomAD v3:
7-94603342-CAT-C
gnomAD v4:
7-94603342-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94603343_94603344del , CM000669.2:g.94603343_94603344del | GRCh38 |
| NC_000007.13:g.94232655_94232656del , CM000669.1:g.94232655_94232656del | GRCh37 |
| NC_000007.12:g.94070591_94070592del | NCBI36 |
| NG_008893.1:g.57866_57867del | |
| NG_008893.2:g.57866_57867del | |
| NG_008893.3:g.58229_58230del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.879_880del (SGCE) | ENSP00000405313.2:p.Cys294Ter | |
| ENST00000428696.7:c.750_751del (SGCE) | ENSP00000397536.3:p.Cys251Ter | |
| ENST00000437425.7:c.648_649del (SGCE) | ENSP00000394061.2:p.Cys217Ter | |
| ENST00000445866.7:c.771_772del (SGCE) | ENSP00000398930.2:p.Cys258Ter | |
| ENST00000447873.6:c.771_772del (SGCE) | ENSP00000388734.1:p.Cys258Ter | |
| ENST00000462731.2:n.316_317del (SGCE) | ||
| ENST00000642169.1:c.*153_*154del (SGCE) | ENSP00000496346.1:n.*153_*154del | |
| ENST00000642291.1:c.632_633del (SGCE) | ||
| ENST00000642353.1:n.742_743del (SGCE) | ||
| ENST00000642394.1:c.648_649del (SGCE) | ENSP00000493751.1:p.Cys217Ter | |
| ENST00000642441.1:c.852_853del (SGCE) | ENSP00000495994.1:p.Cys285Ter | |
| ENST00000642497.1:n.1544_1545del (SGCE) | ||
| ENST00000642564.1:n.871_872del (SGCE) | ||
| ENST00000642638.1:c.*809_*810del (SGCE) | ENSP00000495555.1:n.*809_*810del | |
| ENST00000642707.1:c.879_880del (SGCE) | ENSP00000495270.1:p.Cys294Ter | |
| ENST00000642754.1:n.5643_5644del (SGCE) | ||
| ENST00000642759.1:n.860_861del (SGCE) | ||
| ENST00000642802.1:n.593_594del (SGCE) | ||
| ENST00000642904.1:n.859_860del (SGCE) | ||
| ENST00000642933.1:c.771_772del (SGCE) | ENSP00000496237.1:p.Cys258Ter | |
| ENST00000643020.1:c.697_698del (SGCE) | ||
| ENST00000643041.1:c.771_772del (SGCE) | ENSP00000495311.1:p.Cys258Ter | |
| ENST00000643128.1:c.771_772del (SGCE) | ENSP00000496678.1:p.Cys258Ter | |
| ENST00000643160.1:c.2_3del (SGCE) | ||
| ENST00000643193.1:c.771_772del (SGCE) | ENSP00000496559.1:p.Cys258Ter | |
| ENST00000643206.1:c.*352_*353del (SGCE) | ENSP00000496172.1:n.*352_*353del | |
| ENST00000643272.1:c.879_880del (SGCE) | ENSP00000494488.1:p.Cys294Ter | |
| ENST00000643324.1:n.1662_1663del (SGCE) | ||
| ENST00000643491.1:n.699_700del (SGCE) | ||
| ENST00000643568.1:c.452_453del (SGCE) | ||
| ENST00000643605.1:c.*758_*759del (SGCE) | ENSP00000496480.1:n.*758_*759del | |
| ENST00000643610.1:c.771_772del (SGCE) | ENSP00000494350.1:p.Cys258Ter | |
| ENST00000643714.1:n.839_840del (SGCE) | ||
| ENST00000643903.1:c.771_772del (SGCE) | ENSP00000495165.1:p.Cys258Ter | |
| ENST00000643991.1:c.680_681del (SGCE) | ||
| ENST00000644087.1:c.*848_*849del (SGCE) | ENSP00000495249.1:n.*848_*849del | |
| ENST00000644116.1:c.771_772del (SGCE) | ENSP00000495276.1:p.Cys258Ter | |
| ENST00000644122.1:c.852_853del (SGCE) | ENSP00000495236.1:p.Cys285Ter | |
| ENST00000644201.1:c.554_555del (SGCE) | ENSP00000495044.1:n.554_555del | |
| ENST00000644268.1:n.1391_1392del (SGCE) | ||
| ENST00000644373.1:n.1807_1808del (SGCE) | ||
| ENST00000644375.1:c.837_838del (SGCE) | ENSP00000494315.1:p.Cys280Ter | |
| ENST00000644533.1:n.1526_1527del (SGCE) | ||
| ENST00000644551.1:c.852_853del (SGCE) | ENSP00000493981.1:p.Cys285Ter | |
| ENST00000644609.1:c.771_772del (SGCE) | ENSP00000496045.1:p.Cys258Ter | |
| ENST00000644639.1:c.*432_*433del (SGCE) | ENSP00000496391.1:n.*432_*433del | |
| ENST00000644658.1:c.335_336del (SGCE) | ||
| ENST00000644674.1:n.672_673del (SGCE) | ||
| ENST00000644681.1:c.498_499del (SGCE) | ENSP00000496455.1:p.Cys167Ter | |
| ENST00000644682.1:c.835_836del (SGCE) | ||
| ENST00000644816.1:c.771_772del (SGCE) | ENSP00000494898.1:p.Cys258Ter | |
| ENST00000644966.1:c.750_751del (SGCE) | ENSP00000495105.1:n.750_751del | |
| ENST00000645101.1:c.960_961del (SGCE) | ENSP00000494975.1:p.Cys321Ter | |
| ENST00000645109.1:c.879_880del (SGCE) | ENSP00000495931.1:p.Cys294Ter | |
| ENST00000645262.1:c.648_649del (SGCE) | ENSP00000494164.1:p.Cys217Ter | |
| ENST00000645445.1:c.745_746del (SGCE) | ||
| ENST00000645535.1:c.498_499del (SGCE) | ENSP00000493984.1:p.Cys167Ter | |
| ENST00000645579.1:n.1691_1692del (SGCE) | ||
| ENST00000645624.1:n.334_335del (SGCE) | ||
| ENST00000645725.1:c.852_853del (SGCE) | ENSP00000495480.1:p.Cys285Ter | |
| ENST00000645920.1:c.*578_*579del (SGCE) | ENSP00000494490.1:n.*578_*579del | |
| ENST00000646098.1:c.747_748del (SGCE) | ENSP00000495591.1:p.Cys250Ter | |
| ENST00000646119.1:c.745_746del (SGCE) | ||
| ENST00000646137.1:c.771_772del (SGCE) | ENSP00000495199.1:p.Cys258Ter | |
| ENST00000646265.1:c.860_861del (SGCE) | ||
| ENST00000646301.1:c.744_745del (SGCE) | ||
| ENST00000646434.1:c.1020_1021del (SGCE) | ||
| ENST00000646466.1:c.*701_*702del (SGCE) | ENSP00000493511.1:n.*701_*702del | |
| ENST00000646489.1:c.879_880del (SGCE) | ENSP00000496268.1:p.Cys294Ter | |
| ENST00000646559.1:c.*701_*702del (SGCE) | ENSP00000495838.1:n.*701_*702del | |
| ENST00000646600.1:c.*701_*702del (SGCE) | ENSP00000494041.1:n.*701_*702del | |
| ENST00000646682.1:c.*379_*380del (SGCE) | ENSP00000496461.1:n.*379_*380del | |
| ENST00000646879.1:c.771_772del (SGCE) | ENSP00000495209.1:p.Cys258Ter | |
| ENST00000646910.1:n.804_805del (SGCE) | ||
| ENST00000646943.1:c.771_772del (SGCE) | ENSP00000494666.1:p.Cys258Ter | |
| ENST00000647018.1:c.879_880del (SGCE) | ENSP00000493722.1:p.Cys294Ter | |
| ENST00000647031.1:n.3385_3386del (SGCE) | ||
| ENST00000647048.1:c.595_596del (SGCE) | ||
| ENST00000647096.1:c.879_880del (SGCE) | ENSP00000494192.1:p.Cys294Ter | |
| ENST00000647110.1:c.777_778del (SGCE) | ENSP00000494738.1:p.Cys260Ter | |
| ENST00000647334.1:c.877_878del (SGCE) | ||
| ENST00000647351.1:c.852_853del (SGCE) | ENSP00000494556.1:p.Cys285Ter | |
| ENST00000647533.1:n.1470_1471del (SGCE) | ||
| ENST00000648936.2:c.771_772del (SGCE) MANE Select | ENSP00000497130.1:p.Cys258Ter | |
| ENST00000265735.11:c.771_772del (SGCE) | ENSP00000265735.6:p.Cys258Ter | |
| ENST00000415788.2:c.879_880del (SGCE) | ENSP00000405313.2:p.Cys294Ter | |
| ENST00000428696.6:c.771_772del (SGCE) | ENSP00000397536.2:p.Cys258Ter | |
| ENST00000437425.6:c.648_649del (SGCE) | ENSP00000394061.2:p.Cys217Ter | |
| ENST00000445866.6:c.771_772del (SGCE) | ENSP00000398930.2:p.Cys258Ter | |
| ENST00000447873.5:c.771_772del (SGCE) | ENSP00000388734.1:p.Cys258Ter | |
| ENST00000462731.1:n.64_65del (SGCE) | ||
| NM_001099400.1:c.771_772del (SGCE) | NP_001092870.1:p.Cys258Ter | |
| NM_001099401.1:c.771_772del (SGCE) | NP_001092871.1:p.Cys258Ter | |
| NM_001301139.1:c.648_649del (SGCE) | NP_001288068.1:p.Cys217Ter | |
| NM_003919.2:c.771_772del (SGCE) | NP_003910.1:p.Cys258Ter | |
| XM_005250675.3:c.879_880del (SGCE) | XP_005250732.1:p.Cys294Ter | |
| XM_005250677.3:c.879_880del (SGCE) | XP_005250734.1:p.Cys294Ter | |
| XM_011516495.1:c.2128-27973_2128-27972del (CASD1) | XP_011514797.1:n.2128-27973_2128-27972del | |
| XM_011516663.1:c.879_880del (SGCE) | XP_011514965.1:p.Cys294Ter | |
| XM_011516664.1:c.879_880del (SGCE) | XP_011514966.1:p.Cys294Ter | |
| XM_011516665.1:c.771_772del (SGCE) | XP_011514967.1:p.Cys258Ter | |
| XM_011516666.1:c.771_772del (SGCE) | XP_011514968.1:p.Cys258Ter | |
| XM_011516667.1:c.684_685del (SGCE) | XP_011514969.1:p.Cys229Ter | |
| XM_011516668.1:c.648_649del (SGCE) | XP_011514970.1:p.Cys217Ter | |
| XM_011516669.1:c.498_499del (SGCE) | XP_011514971.1:p.Cys167Ter | |
| NM_001346713.1:c.879_880del (SGCE) | NP_001333642.1:p.Cys294Ter | |
| NM_001346715.1:c.879_880del (SGCE) | NP_001333644.1:p.Cys294Ter | |
| NM_001346717.1:c.771_772del (SGCE) | NP_001333646.1:p.Cys258Ter | |
| NM_001346719.1:c.684_685del (SGCE) | NP_001333648.1:p.Cys229Ter | |
| NM_001346720.1:c.498_499del (SGCE) | NP_001333649.1:p.Cys167Ter | |
| NM_001362807.1:c.684_685del (SGCE) | NP_001349736.1:p.Cys229Ter | |
| NM_001362808.1:c.498_499del (SGCE) | NP_001349737.1:p.Cys167Ter | |
| NM_001362809.1:c.648_649del (SGCE) | NP_001349738.1:p.Cys217Ter | |
| XM_011516495.2:c.2128-27973_2128-27972del (CASD1) | XP_011514797.1:n.2128-27973_2128-27972del | |
| XM_011516663.2:c.879_880del (SGCE) | XP_011514965.1:p.Cys294Ter | |
| XM_011516664.2:c.879_880del (SGCE) | XP_011514966.1:p.Cys294Ter | |
| XM_011516665.3:c.771_772del (SGCE) | XP_011514967.1:p.Cys258Ter | |
| XM_011516666.3:c.771_772del (SGCE) | XP_011514968.1:p.Cys258Ter | |
| XM_011516667.2:c.684_685del (SGCE) | XP_011514969.1:p.Cys229Ter | |
| XM_011516669.3:c.498_499del (SGCE) | XP_011514971.1:p.Cys167Ter | |
| XM_017012763.1:c.684_685del (SGCE) | XP_016868252.1:p.Cys229Ter | |
| XM_017012767.1:c.498_499del (SGCE) | XP_016868256.1:p.Cys167Ter | |
| XM_024446985.1:c.648_649del (SGCE) | XP_024302753.1:p.Cys217Ter | |
| XM_024446986.1:c.648_649del (SGCE) | XP_024302754.1:p.Cys217Ter | |
| NM_001099400.2:c.771_772del (SGCE) | NP_001092870.1:p.Cys258Ter | |
| NM_001099401.2:c.771_772del (SGCE) | NP_001092871.1:p.Cys258Ter | |
| NM_001301139.2:c.648_649del (SGCE) | NP_001288068.1:p.Cys217Ter | |
| NM_001346713.2:c.879_880del (SGCE) | NP_001333642.1:p.Cys294Ter | |
| NM_001346715.2:c.879_880del (SGCE) | NP_001333644.1:p.Cys294Ter | |
| NM_001346717.2:c.771_772del (SGCE) | NP_001333646.1:p.Cys258Ter | |
| NM_001346719.2:c.684_685del (SGCE) | NP_001333648.1:p.Cys229Ter | |
| NM_001346720.2:c.498_499del (SGCE) | NP_001333649.1:p.Cys167Ter | |
| NM_001362807.2:c.684_685del (SGCE) | NP_001349736.1:p.Cys229Ter | |
| NM_001362808.2:c.498_499del (SGCE) | NP_001349737.1:p.Cys167Ter | |
| NM_001362809.2:c.648_649del (SGCE) | NP_001349738.1:p.Cys217Ter | |
| NM_003919.3:c.771_772del (SGCE) MANE Select | NP_003910.1:p.Cys258Ter |