Canonical Allele Identifier: CA2683788860

Gene: SGCE CASD1

Linked Data

• gnomAD v4: 7-94628158-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94628159_94628160insTC , CM000669.2:g.94628159_94628160insTC	GRCh38
NC_000007.13:g.94257471_94257472insTC , CM000669.1:g.94257471_94257472insTC	GRCh37
NC_000007.12:g.94095407_94095408insTC	NCBI36
NG_008893.1:g.33051_33052insAG
NG_008893.2:g.33051_33052insAG
NG_008893.3:g.33414_33415insAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000415788.3:c.498+43_498+44insAG (SGCE)	ENSP00000405313.2:n.498+43_498+44insAG
ENST00000425444.2:c.*471_*472insAG (SGCE)	ENSP00000391892.1:n.*471_*472insAG
ENST00000428696.7:c.390+43_390+44insAG (SGCE)	ENSP00000397536.3:n.390+43_390+44insAG
ENST00000437425.7:c.267+43_267+44insAG (SGCE)	ENSP00000394061.2:n.267+43_267+44insAG
ENST00000445866.7:c.390+43_390+44insAG (SGCE)	ENSP00000398930.2:n.390+43_390+44insAG
ENST00000447873.6:c.390+43_390+44insAG (SGCE)	ENSP00000388734.1:n.390+43_390+44insAG
ENST00000450385.6:c.*187+43_*187+44insAG (SGCE)	ENSP00000398344.2:n.*187+43_*187+44insAG
ENST00000642169.1:c.110-4762_110-4761insAG (SGCE)	ENSP00000496346.1:n.110-4762_110-4761insAG
ENST00000642291.1:c.251+43_251+44insAG (SGCE)
ENST00000642353.1:n.361+43_361+44insAG (SGCE)
ENST00000642394.1:c.267+43_267+44insAG (SGCE)	ENSP00000493751.1:n.267+43_267+44insAG
ENST00000642441.1:c.390+43_390+44insAG (SGCE)	ENSP00000495994.1:n.390+43_390+44insAG
ENST00000642564.1:n.490+43_490+44insAG (SGCE)
ENST00000642638.1:c.*428+43_*428+44insAG (SGCE)	ENSP00000495555.1:n.*428+43_*428+44insAG
ENST00000642707.1:c.498+43_498+44insAG (SGCE)	ENSP00000495270.1:n.498+43_498+44insAG
ENST00000642754.1:n.501_502insAG (SGCE)
ENST00000642759.1:n.479+43_479+44insAG (SGCE)
ENST00000642904.1:n.478+43_478+44insAG (SGCE)
ENST00000642933.1:c.390+43_390+44insAG (SGCE)	ENSP00000496237.1:n.390+43_390+44insAG
ENST00000643020.1:c.337+43_337+44insAG (SGCE)
ENST00000643041.1:c.390+43_390+44insAG (SGCE)	ENSP00000495311.1:n.390+43_390+44insAG
ENST00000643128.1:c.390+43_390+44insAG (SGCE)	ENSP00000496678.1:n.390+43_390+44insAG
ENST00000643193.1:c.390+43_390+44insAG (SGCE)	ENSP00000496559.1:n.390+43_390+44insAG
ENST00000643206.1:c.110-4762_110-4761insAG (SGCE)	ENSP00000496172.1:n.110-4762_110-4761insAG
ENST00000643272.1:c.498+43_498+44insAG (SGCE)	ENSP00000494488.1:n.498+43_498+44insAG
ENST00000643358.1:n.1694+43_1694+44insAG (SGCE)
ENST00000643368.1:n.252+43_252+44insAG (SGCE)
ENST00000643568.1:c.71+43_71+44insAG (SGCE)
ENST00000643605.1:c.*377+43_*377+44insAG (SGCE)	ENSP00000496480.1:n.*377+43_*377+44insAG
ENST00000643610.1:c.390+43_390+44insAG (SGCE)	ENSP00000494350.1:n.390+43_390+44insAG
ENST00000643714.1:n.458+43_458+44insAG (SGCE)
ENST00000643903.1:c.390+43_390+44insAG (SGCE)	ENSP00000495165.1:n.390+43_390+44insAG
ENST00000643991.1:c.71+43_71+44insAG (SGCE)
ENST00000644087.1:c.*320+43_*320+44insAG (SGCE)	ENSP00000495249.1:n.*320+43_*320+44insAG
ENST00000644116.1:c.390+43_390+44insAG (SGCE)	ENSP00000495276.1:n.390+43_390+44insAG
ENST00000644122.1:c.390+43_390+44insAG (SGCE)	ENSP00000495236.1:n.390+43_390+44insAG
ENST00000644201.1:c.372+43_372+44insAG (SGCE)	ENSP00000495044.1:n.372+43_372+44insAG
ENST00000644375.1:c.390+43_390+44insAG (SGCE)	ENSP00000494315.1:n.390+43_390+44insAG
ENST00000644551.1:c.390+43_390+44insAG (SGCE)	ENSP00000493981.1:n.390+43_390+44insAG
ENST00000644609.1:c.390+43_390+44insAG (SGCE)	ENSP00000496045.1:n.390+43_390+44insAG
ENST00000644639.1:c.390+43_390+44insAG (SGCE)	ENSP00000496391.1:n.390+43_390+44insAG
ENST00000644674.1:n.291+43_291+44insAG (SGCE)
ENST00000644681.1:c.117+43_117+44insAG (SGCE)	ENSP00000496455.1:n.117+43_117+44insAG
ENST00000644682.1:c.343+43_343+44insAG (SGCE)
ENST00000644816.1:c.390+43_390+44insAG (SGCE)	ENSP00000494898.1:n.390+43_390+44insAG
ENST00000644924.1:n.173+1560_173+1561insAG (SGCE)
ENST00000644966.1:c.111+43_111+44insAG (SGCE)	ENSP00000495105.1:n.111+43_111+44insAG
ENST00000645101.1:c.498+43_498+44insAG (SGCE)	ENSP00000494975.1:n.498+43_498+44insAG
ENST00000645109.1:c.498+43_498+44insAG (SGCE)	ENSP00000495931.1:n.498+43_498+44insAG
ENST00000645262.1:c.267+43_267+44insAG (SGCE)	ENSP00000494164.1:n.267+43_267+44insAG
ENST00000645390.1:n.444+43_444+44insAG (SGCE)
ENST00000645445.1:c.388+43_388+44insAG (SGCE)
ENST00000645535.1:c.117+43_117+44insAG (SGCE)	ENSP00000493984.1:n.117+43_117+44insAG
ENST00000645579.1:n.458+43_458+44insAG (SGCE)
ENST00000645725.1:c.390+43_390+44insAG (SGCE)	ENSP00000495480.1:n.390+43_390+44insAG
ENST00000645920.1:c.*197+43_*197+44insAG (SGCE)	ENSP00000494490.1:n.*197+43_*197+44insAG
ENST00000646098.1:c.390+43_390+44insAG (SGCE)	ENSP00000495591.1:n.390+43_390+44insAG
ENST00000646119.1:c.364+43_364+44insAG (SGCE)
ENST00000646137.1:c.390+43_390+44insAG (SGCE)	ENSP00000495199.1:n.390+43_390+44insAG
ENST00000646265.1:c.479+43_479+44insAG (SGCE)
ENST00000646301.1:c.363+43_363+44insAG (SGCE)
ENST00000646434.1:c.558+43_558+44insAG (SGCE)
ENST00000646466.1:c.*320+43_*320+44insAG (SGCE)	ENSP00000493511.1:n.*320+43_*320+44insAG
ENST00000646489.1:c.498+43_498+44insAG (SGCE)	ENSP00000496268.1:n.498+43_498+44insAG
ENST00000646559.1:c.*320+43_*320+44insAG (SGCE)	ENSP00000495838.1:n.*320+43_*320+44insAG
ENST00000646600.1:c.*320+43_*320+44insAG (SGCE)	ENSP00000494041.1:n.*320+43_*320+44insAG
ENST00000646682.1:c.*197+43_*197+44insAG (SGCE)	ENSP00000496461.1:n.*197+43_*197+44insAG
ENST00000646761.1:n.377_378insAG (SGCE)
ENST00000646879.1:c.390+43_390+44insAG (SGCE)	ENSP00000495209.1:n.390+43_390+44insAG
ENST00000646910.1:n.423+43_423+44insAG (SGCE)
ENST00000646943.1:c.390+43_390+44insAG (SGCE)	ENSP00000494666.1:n.390+43_390+44insAG
ENST00000647018.1:c.498+43_498+44insAG (SGCE)	ENSP00000493722.1:n.498+43_498+44insAG
ENST00000647048.1:c.214+43_214+44insAG (SGCE)
ENST00000647096.1:c.498+43_498+44insAG (SGCE)	ENSP00000494192.1:n.498+43_498+44insAG
ENST00000647110.1:c.285+43_285+44insAG (SGCE)	ENSP00000494738.1:n.285+43_285+44insAG
ENST00000647334.1:c.496+43_496+44insAG (SGCE)
ENST00000647351.1:c.390+43_390+44insAG (SGCE)	ENSP00000494556.1:n.390+43_390+44insAG
ENST00000648936.2:c.390+43_390+44insAG (SGCE) MANE Select	ENSP00000497130.1:n.390+43_390+44insAG
ENST00000265735.11:c.390+43_390+44insAG (SGCE)	ENSP00000265735.6:n.390+43_390+44insAG
ENST00000415788.2:c.498+43_498+44insAG (SGCE)	ENSP00000405313.2:n.498+43_498+44insAG
ENST00000425444.1:c.*320+43_*320+44insAG (SGCE)	ENSP00000391892.1:n.*320+43_*320+44insAG
ENST00000428696.6:c.390+43_390+44insAG (SGCE)	ENSP00000397536.2:n.390+43_390+44insAG
ENST00000437425.6:c.267+43_267+44insAG (SGCE)	ENSP00000394061.2:n.267+43_267+44insAG
ENST00000445866.6:c.390+43_390+44insAG (SGCE)	ENSP00000398930.2:n.390+43_390+44insAG
ENST00000447873.5:c.390+43_390+44insAG (SGCE)	ENSP00000388734.1:n.390+43_390+44insAG
ENST00000450385.5:c.*428+43_*428+44insAG (SGCE)	ENSP00000398344.1:n.*428+43_*428+44insAG
NM_001099400.1:c.390+43_390+44insAG (SGCE)	NP_001092870.1:n.390+43_390+44insAG
NM_001099401.1:c.390+43_390+44insAG (SGCE)	NP_001092871.1:n.390+43_390+44insAG
NM_001301139.1:c.267+43_267+44insAG (SGCE)	NP_001288068.1:n.267+43_267+44insAG
NM_003919.2:c.390+43_390+44insAG (SGCE)	NP_003910.1:n.390+43_390+44insAG
XM_005250675.3:c.498+43_498+44insAG (SGCE)	XP_005250732.1:n.498+43_498+44insAG
XM_005250677.3:c.498+43_498+44insAG (SGCE)	XP_005250734.1:n.498+43_498+44insAG
XM_011516495.1:c.2128-3157_2128-3156insTC (CASD1)	XP_011514797.1:n.2128-3157_2128-3156insTC
XM_011516663.1:c.498+43_498+44insAG (SGCE)	XP_011514965.1:n.498+43_498+44insAG
XM_011516664.1:c.498+43_498+44insAG (SGCE)	XP_011514966.1:n.498+43_498+44insAG
XM_011516665.1:c.390+43_390+44insAG (SGCE)	XP_011514967.1:n.390+43_390+44insAG
XM_011516666.1:c.390+43_390+44insAG (SGCE)	XP_011514968.1:n.390+43_390+44insAG
XM_011516667.1:c.303+43_303+44insAG (SGCE)	XP_011514969.1:n.303+43_303+44insAG
XM_011516668.1:c.267+43_267+44insAG (SGCE)	XP_011514970.1:n.267+43_267+44insAG
XM_011516669.1:c.117+43_117+44insAG (SGCE)	XP_011514971.1:n.117+43_117+44insAG
NM_001346713.1:c.498+43_498+44insAG (SGCE)	NP_001333642.1:n.498+43_498+44insAG
NM_001346715.1:c.498+43_498+44insAG (SGCE)	NP_001333644.1:n.498+43_498+44insAG
NM_001346717.1:c.390+43_390+44insAG (SGCE)	NP_001333646.1:n.390+43_390+44insAG
NM_001346719.1:c.303+43_303+44insAG (SGCE)	NP_001333648.1:n.303+43_303+44insAG
NM_001346720.1:c.117+43_117+44insAG (SGCE)	NP_001333649.1:n.117+43_117+44insAG
NM_001362807.1:c.303+43_303+44insAG (SGCE)	NP_001349736.1:n.303+43_303+44insAG
NM_001362808.1:c.117+43_117+44insAG (SGCE)	NP_001349737.1:n.117+43_117+44insAG
NM_001362809.1:c.267+43_267+44insAG (SGCE)	NP_001349738.1:n.267+43_267+44insAG
XM_011516495.2:c.2128-3157_2128-3156insTC (CASD1)	XP_011514797.1:n.2128-3157_2128-3156insTC
XM_011516663.2:c.498+43_498+44insAG (SGCE)	XP_011514965.1:n.498+43_498+44insAG
XM_011516664.2:c.498+43_498+44insAG (SGCE)	XP_011514966.1:n.498+43_498+44insAG
XM_011516665.3:c.390+43_390+44insAG (SGCE)	XP_011514967.1:n.390+43_390+44insAG
XM_011516666.3:c.390+43_390+44insAG (SGCE)	XP_011514968.1:n.390+43_390+44insAG
XM_011516667.2:c.303+43_303+44insAG (SGCE)	XP_011514969.1:n.303+43_303+44insAG
XM_011516669.3:c.117+43_117+44insAG (SGCE)	XP_011514971.1:n.117+43_117+44insAG
XM_017012763.1:c.303+43_303+44insAG (SGCE)	XP_016868252.1:n.303+43_303+44insAG
XM_017012767.1:c.117+43_117+44insAG (SGCE)	XP_016868256.1:n.117+43_117+44insAG
XM_024446985.1:c.267+43_267+44insAG (SGCE)	XP_024302753.1:n.267+43_267+44insAG
XM_024446986.1:c.267+43_267+44insAG (SGCE)	XP_024302754.1:n.267+43_267+44insAG
NM_001099400.2:c.390+43_390+44insAG (SGCE)	NP_001092870.1:n.390+43_390+44insAG
NM_001099401.2:c.390+43_390+44insAG (SGCE)	NP_001092871.1:n.390+43_390+44insAG
NM_001301139.2:c.267+43_267+44insAG (SGCE)	NP_001288068.1:n.267+43_267+44insAG
NM_001346713.2:c.498+43_498+44insAG (SGCE)	NP_001333642.1:n.498+43_498+44insAG
NM_001346715.2:c.498+43_498+44insAG (SGCE)	NP_001333644.1:n.498+43_498+44insAG
NM_001346717.2:c.390+43_390+44insAG (SGCE)	NP_001333646.1:n.390+43_390+44insAG
NM_001346719.2:c.303+43_303+44insAG (SGCE)	NP_001333648.1:n.303+43_303+44insAG
NM_001346720.2:c.117+43_117+44insAG (SGCE)	NP_001333649.1:n.117+43_117+44insAG
NM_001362807.2:c.303+43_303+44insAG (SGCE)	NP_001349736.1:n.303+43_303+44insAG
NM_001362808.2:c.117+43_117+44insAG (SGCE)	NP_001349737.1:n.117+43_117+44insAG
NM_001362809.2:c.267+43_267+44insAG (SGCE)	NP_001349738.1:n.267+43_267+44insAG
NM_003919.3:c.390+43_390+44insAG (SGCE) MANE Select	NP_003910.1:n.390+43_390+44insAG