Canonical Allele Identifier: CA16042744

Linked Data

ClinVar Variation Id: 373313
ClinVar RCV Id: RCV000413121
dbSNP Id: rs1057518344

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94628246del , CM000669.2:g.94628246del GRCh38
NC_000007.13:g.94257558del , CM000669.1:g.94257558del GRCh37
NC_000007.12:g.94095494del NCBI36
NG_008893.1:g.32966del
NG_008893.2:g.32966del
NG_008893.3:g.33329del

Transcript Alleles

HGVS Amino-acid change
ENST00000415788.3:c.456del (SGCE) ENSP00000405313.2:p.Ser153ProfsTer15
ENST00000425444.2:c.*386del (SGCE) ENSP00000391892.1:n.*386del
ENST00000428696.7:c.348del (SGCE) ENSP00000397536.3:p.Ser117ProfsTer15
ENST00000437425.7:c.225del (SGCE) ENSP00000394061.2:p.Ser76ProfsTer15
ENST00000445866.7:c.348del (SGCE) ENSP00000398930.2:p.Ser117ProfsTer15
ENST00000447873.6:c.348del (SGCE) ENSP00000388734.1:p.Ser117ProfsTer15
ENST00000450385.6:c.*145del (SGCE) ENSP00000398344.2:n.*145del
ENST00000642169.1:c.110-4847del (SGCE) ENSP00000496346.1:n.110-4847del
ENST00000642291.1:c.209del (SGCE)
ENST00000642353.1:n.319del (SGCE)
ENST00000642394.1:c.225del (SGCE) ENSP00000493751.1:p.Ser76ProfsTer15
ENST00000642441.1:c.348del (SGCE) ENSP00000495994.1:p.Ser117ProfsTer15
ENST00000642564.1:n.448del (SGCE)
ENST00000642638.1:c.*386del (SGCE) ENSP00000495555.1:n.*386del
ENST00000642707.1:c.456del (SGCE) ENSP00000495270.1:p.Ser153ProfsTer15
ENST00000642754.1:n.416del (SGCE)
ENST00000642759.1:n.437del (SGCE)
ENST00000642904.1:n.436del (SGCE)
ENST00000642933.1:c.348del (SGCE) ENSP00000496237.1:p.Ser117ProfsTer15
ENST00000643020.1:c.295del (SGCE)
ENST00000643041.1:c.348del (SGCE) ENSP00000495311.1:p.Ser117ProfsTer15
ENST00000643128.1:c.348del (SGCE) ENSP00000496678.1:p.Ser117ProfsTer15
ENST00000643193.1:c.348del (SGCE) ENSP00000496559.1:p.Ser117ProfsTer15
ENST00000643206.1:c.110-4847del (SGCE) ENSP00000496172.1:n.110-4847del
ENST00000643272.1:c.456del (SGCE) ENSP00000494488.1:p.Ser153ProfsTer15
ENST00000643358.1:n.1652del (SGCE)
ENST00000643368.1:n.210del (SGCE)
ENST00000643568.1:c.29del (SGCE)
ENST00000643605.1:c.*335del (SGCE) ENSP00000496480.1:n.*335del
ENST00000643610.1:c.348del (SGCE) ENSP00000494350.1:p.Ser117ProfsTer15
ENST00000643714.1:n.416del (SGCE)
ENST00000643903.1:c.348del (SGCE) ENSP00000495165.1:p.Ser117ProfsTer15
ENST00000643991.1:c.29del (SGCE)
ENST00000644087.1:c.*278del (SGCE) ENSP00000495249.1:n.*278del
ENST00000644116.1:c.348del (SGCE) ENSP00000495276.1:p.Ser117ProfsTer15
ENST00000644122.1:c.348del (SGCE) ENSP00000495236.1:p.Ser117ProfsTer15
ENST00000644201.1:c.330del (SGCE) ENSP00000495044.1:p.Ser111ProfsTer15
ENST00000644375.1:c.348del (SGCE) ENSP00000494315.1:p.Ser117ProfsTer26
ENST00000644551.1:c.348del (SGCE) ENSP00000493981.1:p.Ser117ProfsTer15
ENST00000644609.1:c.348del (SGCE) ENSP00000496045.1:p.Ser117ProfsTer15
ENST00000644639.1:c.348del (SGCE) ENSP00000496391.1:p.Ser117ProfsTer15
ENST00000644674.1:n.249del (SGCE)
ENST00000644681.1:c.75del (SGCE) ENSP00000496455.1:p.Ser26ProfsTer15
ENST00000644682.1:c.301del (SGCE)
ENST00000644816.1:c.348del (SGCE) ENSP00000494898.1:p.Ser117ProfsTer15
ENST00000644924.1:n.173+1475del (SGCE)
ENST00000644966.1:c.69del (SGCE) ENSP00000495105.1:p.Ser24ProfsTer15
ENST00000645101.1:c.456del (SGCE) ENSP00000494975.1:p.Ser153ProfsTer15
ENST00000645109.1:c.456del (SGCE) ENSP00000495931.1:p.Ser153ProfsTer15
ENST00000645262.1:c.225del (SGCE) ENSP00000494164.1:p.Ser76ProfsTer15
ENST00000645390.1:n.402del (SGCE)
ENST00000645445.1:c.346del (SGCE)
ENST00000645535.1:c.75del (SGCE) ENSP00000493984.1:p.Ser26ProfsTer15
ENST00000645579.1:n.416del (SGCE)
ENST00000645725.1:c.348del (SGCE) ENSP00000495480.1:p.Ser117ProfsTer15
ENST00000645920.1:c.*155del (SGCE) ENSP00000494490.1:n.*155del
ENST00000646098.1:c.348del (SGCE) ENSP00000495591.1:p.Ser117ProfsTer15
ENST00000646119.1:c.322del (SGCE)
ENST00000646137.1:c.348del (SGCE) ENSP00000495199.1:p.Ser117ProfsTer15
ENST00000646265.1:c.437del (SGCE)
ENST00000646301.1:c.321del (SGCE)
ENST00000646434.1:c.516del (SGCE)
ENST00000646466.1:c.*278del (SGCE) ENSP00000493511.1:n.*278del
ENST00000646489.1:c.456del (SGCE) ENSP00000496268.1:p.Ser153ProfsTer15
ENST00000646559.1:c.*278del (SGCE) ENSP00000495838.1:n.*278del
ENST00000646600.1:c.*278del (SGCE) ENSP00000494041.1:n.*278del
ENST00000646682.1:c.*155del (SGCE) ENSP00000496461.1:n.*155del
ENST00000646761.1:n.292del (SGCE)
ENST00000646879.1:c.348del (SGCE) ENSP00000495209.1:p.Ser117ProfsTer15
ENST00000646910.1:n.381del (SGCE)
ENST00000646943.1:c.348del (SGCE) ENSP00000494666.1:p.Ser117ProfsTer15
ENST00000647018.1:c.456del (SGCE) ENSP00000493722.1:p.Ser153ProfsTer15
ENST00000647048.1:c.172del (SGCE)
ENST00000647096.1:c.456del (SGCE) ENSP00000494192.1:p.Ser153ProfsTer15
ENST00000647110.1:c.243del (SGCE) ENSP00000494738.1:p.Ser82ProfsTer15
ENST00000647334.1:c.454del (SGCE)
ENST00000647351.1:c.348del (SGCE) ENSP00000494556.1:p.Ser117ProfsTer15
ENST00000648936.2:c.348del (SGCE) MANE Select ENSP00000497130.1:p.Ser117ProfsTer15
ENST00000265735.11:c.348del (SGCE) ENSP00000265735.6:p.Ser117ProfsTer15
ENST00000415788.2:c.456del (SGCE) ENSP00000405313.2:p.Ser153ProfsTer15
ENST00000425444.1:c.*278del (SGCE) ENSP00000391892.1:n.*278del
ENST00000428696.6:c.348del (SGCE) ENSP00000397536.2:p.Ser117ProfsTer15
ENST00000437425.6:c.225del (SGCE) ENSP00000394061.2:p.Ser76ProfsTer15
ENST00000445866.6:c.348del (SGCE) ENSP00000398930.2:p.Ser117ProfsTer15
ENST00000447873.5:c.348del (SGCE) ENSP00000388734.1:p.Ser117ProfsTer15
ENST00000450385.5:c.*386del (SGCE) ENSP00000398344.1:n.*386del
NM_001099400.1:c.348del (SGCE) NP_001092870.1:p.Ser117ProfsTer15
NM_001099401.1:c.348del (SGCE) NP_001092871.1:p.Ser117ProfsTer15
NM_001301139.1:c.225del (SGCE) NP_001288068.1:p.Ser76ProfsTer15
NM_003919.2:c.348del (SGCE) NP_003910.1:p.Ser117ProfsTer15
XM_005250675.3:c.456del (SGCE) XP_005250732.1:p.Ser153ProfsTer15
XM_005250677.3:c.456del (SGCE) XP_005250734.1:p.Ser153ProfsTer15
XM_011516495.1:c.2128-3070del (CASD1) XP_011514797.1:n.2128-3070del
XM_011516663.1:c.456del (SGCE) XP_011514965.1:p.Ser153ProfsTer15
XM_011516664.1:c.456del (SGCE) XP_011514966.1:p.Ser153ProfsTer15
XM_011516665.1:c.348del (SGCE) XP_011514967.1:p.Ser117ProfsTer15
XM_011516666.1:c.348del (SGCE) XP_011514968.1:p.Ser117ProfsTer15
XM_011516667.1:c.261del (SGCE) XP_011514969.1:p.Ser88ProfsTer15
XM_011516668.1:c.225del (SGCE) XP_011514970.1:p.Ser76ProfsTer15
XM_011516669.1:c.75del (SGCE) XP_011514971.1:p.Ser26ProfsTer15
NM_001346713.1:c.456del (SGCE) NP_001333642.1:p.Ser153ProfsTer15
NM_001346715.1:c.456del (SGCE) NP_001333644.1:p.Ser153ProfsTer15
NM_001346717.1:c.348del (SGCE) NP_001333646.1:p.Ser117ProfsTer15
NM_001346719.1:c.261del (SGCE) NP_001333648.1:p.Ser88ProfsTer15
NM_001346720.1:c.75del (SGCE) NP_001333649.1:p.Ser26ProfsTer15
NM_001362807.1:c.261del (SGCE) NP_001349736.1:p.Ser88ProfsTer15
NM_001362808.1:c.75del (SGCE) NP_001349737.1:p.Ser26ProfsTer15
NM_001362809.1:c.225del (SGCE) NP_001349738.1:p.Ser76ProfsTer15
XM_011516495.2:c.2128-3070del (CASD1) XP_011514797.1:n.2128-3070del
XM_011516663.2:c.456del (SGCE) XP_011514965.1:p.Ser153ProfsTer15
XM_011516664.2:c.456del (SGCE) XP_011514966.1:p.Ser153ProfsTer15
XM_011516665.3:c.348del (SGCE) XP_011514967.1:p.Ser117ProfsTer15
XM_011516666.3:c.348del (SGCE) XP_011514968.1:p.Ser117ProfsTer15
XM_011516667.2:c.261del (SGCE) XP_011514969.1:p.Ser88ProfsTer15
XM_011516669.3:c.75del (SGCE) XP_011514971.1:p.Ser26ProfsTer15
XM_017012763.1:c.261del (SGCE) XP_016868252.1:p.Ser88ProfsTer15
XM_017012767.1:c.75del (SGCE) XP_016868256.1:p.Ser26ProfsTer15
XM_024446985.1:c.225del (SGCE) XP_024302753.1:p.Ser76ProfsTer15
XM_024446986.1:c.225del (SGCE) XP_024302754.1:p.Ser76ProfsTer15
NM_001099400.2:c.348del (SGCE) NP_001092870.1:p.Ser117ProfsTer15
NM_001099401.2:c.348del (SGCE) NP_001092871.1:p.Ser117ProfsTer15
NM_001301139.2:c.225del (SGCE) NP_001288068.1:p.Ser76ProfsTer15
NM_001346713.2:c.456del (SGCE) NP_001333642.1:p.Ser153ProfsTer15
NM_001346715.2:c.456del (SGCE) NP_001333644.1:p.Ser153ProfsTer15
NM_001346717.2:c.348del (SGCE) NP_001333646.1:p.Ser117ProfsTer15
NM_001346719.2:c.261del (SGCE) NP_001333648.1:p.Ser88ProfsTer15
NM_001346720.2:c.75del (SGCE) NP_001333649.1:p.Ser26ProfsTer15
NM_001362807.2:c.261del (SGCE) NP_001349736.1:p.Ser88ProfsTer15
NM_001362808.2:c.75del (SGCE) NP_001349737.1:p.Ser26ProfsTer15
NM_001362809.2:c.225del (SGCE) NP_001349738.1:p.Ser76ProfsTer15
NM_003919.3:c.348del (SGCE) MANE Select NP_003910.1:p.Ser117ProfsTer15