Canonical Allele Identifier: CA2580077890

Gene: SGCE CASD1

Linked Data

• ClinVar Variation Id: 2064583
• ClinVar RCV Id: RCV002928845

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94600643del , CM000669.2:g.94600643del	GRCh38
NC_000007.13:g.94229955del , CM000669.1:g.94229955del	GRCh37
NC_000007.12:g.94067891del	NCBI36
NG_008893.1:g.60567del
NG_008893.2:g.60567del
NG_008893.3:g.60930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415788.3:c.1145+3del (SGCE)	ENSP00000405313.2:n.1145+3del
ENST00000428696.7:c.1016+3del (SGCE)	ENSP00000397536.3:n.1016+3del
ENST00000437425.7:c.914+3del (SGCE)	ENSP00000394061.2:n.914+3del
ENST00000445866.7:c.1037+3del (SGCE)	ENSP00000398930.2:n.1037+3del
ENST00000447873.6:c.1037+3del (SGCE)	ENSP00000388734.1:n.1037+3del
ENST00000642169.1:c.*419+3del (SGCE)	ENSP00000496346.1:n.*419+3del
ENST00000642291.1:c.898+3del (SGCE)
ENST00000642353.1:n.1008+3del (SGCE)
ENST00000642394.1:c.914+3del (SGCE)	ENSP00000493751.1:n.914+3del
ENST00000642441.1:c.1118+3del (SGCE)	ENSP00000495994.1:n.1118+3del
ENST00000642497.1:n.1810+3del (SGCE)
ENST00000642564.1:n.1137+3del (SGCE)
ENST00000642638.1:c.*1075+3del (SGCE)	ENSP00000495555.1:n.*1075+3del
ENST00000642707.1:c.1145+3del (SGCE)	ENSP00000495270.1:n.1145+3del
ENST00000642754.1:n.5909+3del (SGCE)
ENST00000642759.1:n.1126+3del (SGCE)
ENST00000642802.1:n.859+3del (SGCE)
ENST00000642904.1:n.1125+3del (SGCE)
ENST00000642933.1:c.1037+3del (SGCE)	ENSP00000496237.1:n.1037+3del
ENST00000643020.1:c.963+3del (SGCE)
ENST00000643041.1:c.1037+3del (SGCE)	ENSP00000495311.1:n.1037+3del
ENST00000643128.1:c.1037+3del (SGCE)	ENSP00000496678.1:n.1037+3del
ENST00000643160.1:c.268+3del (SGCE)
ENST00000643193.1:c.1037+3del (SGCE)	ENSP00000496559.1:n.1037+3del
ENST00000643206.1:c.*618+3del (SGCE)	ENSP00000496172.1:n.*618+3del
ENST00000643272.1:c.1145+3del (SGCE)	ENSP00000494488.1:n.1145+3del
ENST00000643324.1:n.1928+3del (SGCE)
ENST00000643491.1:n.965+3del (SGCE)
ENST00000643568.1:c.718+3del (SGCE)
ENST00000643605.1:c.*1024+3del (SGCE)	ENSP00000496480.1:n.*1024+3del
ENST00000643610.1:c.1037+3del (SGCE)	ENSP00000494350.1:n.1037+3del
ENST00000643714.1:n.1105+3del (SGCE)
ENST00000643903.1:c.1037+3del (SGCE)	ENSP00000495165.1:n.1037+3del
ENST00000643991.1:c.946+3del (SGCE)
ENST00000644087.1:c.*1114+3del (SGCE)	ENSP00000495249.1:n.*1114+3del
ENST00000644116.1:c.1037+3del (SGCE)	ENSP00000495276.1:n.1037+3del
ENST00000644122.1:c.1118+3del (SGCE)	ENSP00000495236.1:n.1118+3del
ENST00000644201.1:c.820+3del (SGCE)	ENSP00000495044.1:n.820+3del
ENST00000644268.1:n.1657+3del (SGCE)
ENST00000644373.1:n.2073+3del (SGCE)
ENST00000644375.1:c.1103+3del (SGCE)	ENSP00000494315.1:n.1103+3del
ENST00000644533.1:n.1792+3del (SGCE)
ENST00000644551.1:c.1118+3del (SGCE)	ENSP00000493981.1:n.1118+3del
ENST00000644609.1:c.1037+3del (SGCE)	ENSP00000496045.1:n.1037+3del
ENST00000644639.1:c.*698+3del (SGCE)	ENSP00000496391.1:n.*698+3del
ENST00000644658.1:c.390-920del (SGCE)
ENST00000644674.1:n.938+3del (SGCE)
ENST00000644681.1:c.764+3del (SGCE)	ENSP00000496455.1:n.764+3del
ENST00000644682.1:c.1101+3del (SGCE)
ENST00000644816.1:c.1037+3del (SGCE)	ENSP00000494898.1:n.1037+3del
ENST00000645101.1:c.1226+3del (SGCE)	ENSP00000494975.1:n.1226+3del
ENST00000645109.1:c.1145+3del (SGCE)	ENSP00000495931.1:n.1145+3del
ENST00000645262.1:c.914+3del (SGCE)	ENSP00000494164.1:n.914+3del
ENST00000645445.1:c.1011+3del (SGCE)
ENST00000645535.1:c.764+3del (SGCE)	ENSP00000493984.1:n.764+3del
ENST00000645579.1:n.1957+3del (SGCE)
ENST00000645624.1:n.600+3del (SGCE)
ENST00000645725.1:c.1118+3del (SGCE)	ENSP00000495480.1:n.1118+3del
ENST00000645804.1:c.29+3del (SGCE)	ENSP00000494688.1:n.29+3del
ENST00000646098.1:c.1013+3del (SGCE)	ENSP00000495591.1:n.1013+3del
ENST00000646119.1:c.1011+3del (SGCE)
ENST00000646137.1:c.1037+3del (SGCE)	ENSP00000495199.1:n.1037+3del
ENST00000646265.1:c.1126+3del (SGCE)
ENST00000646301.1:c.1010+3del (SGCE)
ENST00000646434.1:c.1286+3del (SGCE)
ENST00000646466.1:c.*967+3del (SGCE)	ENSP00000493511.1:n.*967+3del
ENST00000646489.1:c.1145+3del (SGCE)	ENSP00000496268.1:n.1145+3del
ENST00000646559.1:c.*967+3del (SGCE)	ENSP00000495838.1:n.*967+3del
ENST00000646600.1:c.*967+3del (SGCE)	ENSP00000494041.1:n.*967+3del
ENST00000646682.1:c.*645+3del (SGCE)	ENSP00000496461.1:n.*645+3del
ENST00000646879.1:c.1037+3del (SGCE)	ENSP00000495209.1:n.1037+3del
ENST00000646910.1:n.1070+3del (SGCE)
ENST00000646943.1:c.1037+3del (SGCE)	ENSP00000494666.1:n.1037+3del
ENST00000647018.1:c.1145+3del (SGCE)	ENSP00000493722.1:n.1145+3del
ENST00000647031.1:n.3651+3del (SGCE)
ENST00000647048.1:c.861+3del (SGCE)
ENST00000647096.1:c.1145+3del (SGCE)	ENSP00000494192.1:n.1145+3del
ENST00000647110.1:c.1043+3del (SGCE)	ENSP00000494738.1:n.1043+3del
ENST00000647334.1:c.1143+3del (SGCE)
ENST00000647351.1:c.1118+3del (SGCE)	ENSP00000494556.1:n.1118+3del
ENST00000647379.1:n.250+3del (SGCE)
ENST00000647533.1:n.1739del (SGCE)
ENST00000648936.2:c.1037+3del (SGCE) MANE Select	ENSP00000497130.1:n.1037+3del
ENST00000265735.11:c.1037+3del (SGCE)	ENSP00000265735.6:n.1037+3del
ENST00000415788.2:c.1145+3del (SGCE)	ENSP00000405313.2:n.1145+3del
ENST00000428696.6:c.1037+3del (SGCE)	ENSP00000397536.2:n.1037+3del
ENST00000437425.6:c.914+3del (SGCE)	ENSP00000394061.2:n.914+3del
ENST00000445866.6:c.1037+3del (SGCE)	ENSP00000398930.2:n.1037+3del
ENST00000447873.5:c.1037+3del (SGCE)	ENSP00000388734.1:n.1037+3del
ENST00000462731.1:n.333del (SGCE)
ENST00000522045.5:c.95+3del (SGCE)	ENSP00000431080.1:n.95+3del
NM_001099400.1:c.1037+3del (SGCE)	NP_001092870.1:n.1037+3del
NM_001099401.1:c.1037+3del (SGCE)	NP_001092871.1:n.1037+3del
NM_001301139.1:c.914+3del (SGCE)	NP_001288068.1:n.914+3del
NM_003919.2:c.1037+3del (SGCE)	NP_003910.1:n.1037+3del
XM_005250675.3:c.1145+3del (SGCE)	XP_005250732.1:n.1145+3del
XM_005250677.3:c.1145+3del (SGCE)	XP_005250734.1:n.1145+3del
XM_011516495.1:c.2128-30673del (CASD1)	XP_011514797.1:n.2128-30673del
XM_011516663.1:c.1145+3del (SGCE)	XP_011514965.1:n.1145+3del
XM_011516664.1:c.1145+3del (SGCE)	XP_011514966.1:n.1145+3del
XM_011516665.1:c.1037+3del (SGCE)	XP_011514967.1:n.1037+3del
XM_011516666.1:c.1037+3del (SGCE)	XP_011514968.1:n.1037+3del
XM_011516667.1:c.950+3del (SGCE)	XP_011514969.1:n.950+3del
XM_011516668.1:c.914+3del (SGCE)	XP_011514970.1:n.914+3del
XM_011516669.1:c.764+3del (SGCE)	XP_011514971.1:n.764+3del
NM_001346713.1:c.1145+3del (SGCE)	NP_001333642.1:n.1145+3del
NM_001346715.1:c.1145+3del (SGCE)	NP_001333644.1:n.1145+3del
NM_001346717.1:c.1037+3del (SGCE)	NP_001333646.1:n.1037+3del
NM_001346719.1:c.950+3del (SGCE)	NP_001333648.1:n.950+3del
NM_001346720.1:c.764+3del (SGCE)	NP_001333649.1:n.764+3del
NM_001362807.1:c.950+3del (SGCE)	NP_001349736.1:n.950+3del
NM_001362808.1:c.764+3del (SGCE)	NP_001349737.1:n.764+3del
NM_001362809.1:c.914+3del (SGCE)	NP_001349738.1:n.914+3del
XM_011516495.2:c.2128-30673del (CASD1)	XP_011514797.1:n.2128-30673del
XM_011516663.2:c.1145+3del (SGCE)	XP_011514965.1:n.1145+3del
XM_011516664.2:c.1145+3del (SGCE)	XP_011514966.1:n.1145+3del
XM_011516665.3:c.1037+3del (SGCE)	XP_011514967.1:n.1037+3del
XM_011516666.3:c.1037+3del (SGCE)	XP_011514968.1:n.1037+3del
XM_011516667.2:c.950+3del (SGCE)	XP_011514969.1:n.950+3del
XM_011516669.3:c.764+3del (SGCE)	XP_011514971.1:n.764+3del
XM_017012763.1:c.950+3del (SGCE)	XP_016868252.1:n.950+3del
XM_017012767.1:c.764+3del (SGCE)	XP_016868256.1:n.764+3del
XM_024446985.1:c.914+3del (SGCE)	XP_024302753.1:n.914+3del
XM_024446986.1:c.914+3del (SGCE)	XP_024302754.1:n.914+3del
NM_001099400.2:c.1037+3del (SGCE)	NP_001092870.1:n.1037+3del
NM_001099401.2:c.1037+3del (SGCE)	NP_001092871.1:n.1037+3del
NM_001301139.2:c.914+3del (SGCE)	NP_001288068.1:n.914+3del
NM_001346713.2:c.1145+3del (SGCE)	NP_001333642.1:n.1145+3del
NM_001346715.2:c.1145+3del (SGCE)	NP_001333644.1:n.1145+3del
NM_001346717.2:c.1037+3del (SGCE)	NP_001333646.1:n.1037+3del
NM_001346719.2:c.950+3del (SGCE)	NP_001333648.1:n.950+3del
NM_001346720.2:c.764+3del (SGCE)	NP_001333649.1:n.764+3del
NM_001362807.2:c.950+3del (SGCE)	NP_001349736.1:n.950+3del
NM_001362808.2:c.764+3del (SGCE)	NP_001349737.1:n.764+3del
NM_001362809.2:c.914+3del (SGCE)	NP_001349738.1:n.914+3del
NM_003919.3:c.1037+3del (SGCE) MANE Select	NP_003910.1:n.1037+3del