Canonical Allele Identifier: CA529718159
Gene: DISC1 HGNC NCBI
TSNAX-DISC1 HGNC NCBI

Linked Data

dbSNP Id: rs1415409121
gnomAD v2: 1-231902900-ACACC-A
gnomAD v4: 1-231767154-ACACC-A
MyVariant Identifiers: chr1:g.231902901_231902904del (hg19) chr1:g.231767155_231767158del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231767158_231767161del , CM000663.2:g.231767158_231767161del GRCh38
NC_000001.10:g.231902904_231902907del , CM000663.1:g.231902904_231902907del GRCh37
NC_000001.9:g.229969527_229969530del NCBI36
NG_011681.1:g.145344_145347del
NG_011681.2:g.145344_145347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366637.8:c.1287_1290del (DISC1) ENSP00000355597.6:p.His430ProfsTer3
ENST00000439617.8:c.1287_1290del (DISC1) MANE Select ENSP00000403888.4:p.His430ProfsTer3
ENST00000644515.1:c.*1433_*1436del (TSNAX-DISC1) ENSP00000496433.1:n.*1433_*1436del
ENST00000646525.1:c.*1433_*1436del (TSNAX-DISC1) ENSP00000494923.1:n.*1433_*1436del
ENST00000295051.11:c.1287_1290del (DISC1) ENSP00000295051.7:p.His430ProfsTer3
ENST00000366632.6:c.1136_1139del (DISC1) ENSP00000355592.2:p.Pro379HisfsTer?
ENST00000366633.7:c.1287_1290del (DISC1) ENSP00000355593.3:p.His430ProfsTer3
ENST00000366636.8:c.1287_1290del (DISC1) ENSP00000355596.4:p.His430ProfsTer3
ENST00000366637.7:c.1287_1290del (DISC1) ENSP00000355597.5:p.His430ProfsTer3
ENST00000422590.6:c.*1148_*1151del (DISC1) ENSP00000415147.2:n.*1148_*1151del
ENST00000439617.6:c.1287_1290del (DISC1) ENSP00000403888.2:p.His430ProfsTer3
ENST00000535944.5:c.1287_1290del (DISC1) ENSP00000441193.1:p.His430ProfsTer3
ENST00000535983.5:c.1287_1290del (DISC1) ENSP00000443996.1:p.His430ProfsTer3
ENST00000537876.5:c.1287_1290del (DISC1) ENSP00000440909.2:p.His430ProfsTer3
ENST00000539444.5:c.1287_1290del (DISC1) ENSP00000440953.1:p.His430ProfsTer3
ENST00000602281.5:c.1287_1290del (DISC1) ENSP00000473425.1:p.His430ProfsTer3
ENST00000602567.1:c.*1417_*1420del (TSNAX-DISC1) ENSP00000473456.1:n.*1417_*1420del
ENST00000602634.5:c.*1433_*1436del (TSNAX-DISC1) ENSP00000473307.1:n.*1433_*1436del
ENST00000602700.5:c.*146_*149del (DISC1) ENSP00000473417.1:n.*146_*149del
ENST00000602713.5:c.*146_*149del (DISC1) ENSP00000473261.1:n.*146_*149del
ENST00000602822.5:c.*146_*149del (DISC1) ENSP00000473586.1:n.*146_*149del
ENST00000602873.5:c.237_240del (DISC1) ENSP00000473386.1:p.His80ProfsTer3
ENST00000602885.5:c.*1346_*1349del (TSNAX-DISC1) ENSP00000473476.1:n.*1346_*1349del
ENST00000602956.5:c.*1148_*1151del (TSNAX-DISC1) ENSP00000473532.1:n.*1148_*1151del
ENST00000602962.5:c.*1417_*1420del (TSNAX-DISC1) ENSP00000473367.1:n.*1417_*1420del
ENST00000620189.3:c.1268+17082_1268+17085del (DISC1) ENSP00000482174.1:n.1268+17082_1268+17085del
ENST00000622252.4:c.1269-3677_1269-3674del (DISC1) ENSP00000481791.1:n.1269-3677_1269-3674del
ENST00000628350.2:c.1287_1290del (DISC1) ENSP00000487190.1:p.His430ProfsTer3
NM_001012957.1:c.1287_1290del (DISC1) NP_001012975.1:p.His430ProfsTer3
NM_001012959.1:c.1287_1290del (DISC1) NP_001012977.1:p.His430ProfsTer3
NM_001164537.1:c.1383_1386del (DISC1) NP_001158009.1:p.His462ProfsTer3
NM_001164538.1:c.1287_1290del (DISC1) NP_001158010.1:p.His430ProfsTer3
NM_001164539.1:c.1287_1290del (DISC1) NP_001158011.1:p.His430ProfsTer3
NM_001164540.1:c.1268+17082_1268+17085del (DISC1) NP_001158012.1:n.1268+17082_1268+17085del
NM_001164541.1:c.1287_1290del (DISC1) NP_001158013.1:p.His430ProfsTer3
NM_001164542.1:c.1287_1290del (DISC1) NP_001158014.1:p.His430ProfsTer3
NM_001164544.1:c.1287_1290del (DISC1) NP_001158016.1:p.His430ProfsTer3
NM_001164545.1:c.1287_1290del (DISC1) NP_001158017.1:p.His430ProfsTer3
NM_001164546.1:c.1287_1290del (DISC1) NP_001158018.1:p.His430ProfsTer3
NM_001164547.1:c.1287_1290del (DISC1) NP_001158019.1:p.His430ProfsTer3
NM_001164548.1:c.1287_1290del (DISC1) NP_001158020.1:p.His430ProfsTer3
NM_001164549.1:c.1287_1290del (DISC1) NP_001158021.1:p.His430ProfsTer3
NM_001164556.1:c.237_240del (DISC1) NP_001158028.1:p.His80ProfsTer3
NM_018662.2:c.1287_1290del (DISC1) NP_061132.2:p.His430ProfsTer3
NR_028393.1:n.2008_2011del (TSNAX-DISC1)
NR_028394.1:n.2136_2139del (TSNAX-DISC1)
NR_028395.1:n.2136_2139del (TSNAX-DISC1)
NR_028396.1:n.2008_2011del (TSNAX-DISC1)
NR_028397.1:n.1873_1876del (TSNAX-DISC1)
NR_028398.1:n.1627_1630del (TSNAX-DISC1)
NM_001012957.2:c.1287_1290del (DISC1) NP_001012975.1:p.His430ProfsTer3
NM_001012959.2:c.1287_1290del (DISC1) NP_001012977.1:p.His430ProfsTer3
NM_001164537.2:c.1383_1386del (DISC1) NP_001158009.1:p.His462ProfsTer3
NM_001164538.2:c.1287_1290del (DISC1) NP_001158010.1:p.His430ProfsTer3
NM_001164539.2:c.1287_1290del (DISC1) NP_001158011.1:p.His430ProfsTer3
NM_001164540.2:c.1268+17082_1268+17085del (DISC1) NP_001158012.1:n.1268+17082_1268+17085del
NM_001164541.2:c.1287_1290del (DISC1) NP_001158013.1:p.His430ProfsTer3
NM_001164542.2:c.1287_1290del (DISC1) NP_001158014.1:p.His430ProfsTer3
NM_001164546.2:c.1287_1290del (DISC1) NP_001158018.1:p.His430ProfsTer3
NM_001164547.2:c.1287_1290del (DISC1) NP_001158019.1:p.His430ProfsTer3
NM_001164549.2:c.1287_1290del (DISC1) NP_001158021.1:p.His430ProfsTer3
NM_018662.3:c.1287_1290del (DISC1) MANE Select NP_061132.2:p.His430ProfsTer3
NM_001164544.2:c.1287_1290del (DISC1) NP_001158016.1:p.His430ProfsTer3
NM_001164545.2:c.1287_1290del (DISC1) NP_001158017.1:p.His430ProfsTer3
NM_001164548.2:c.1287_1290del (DISC1) NP_001158020.1:p.His430ProfsTer3
NM_001164556.2:c.237_240del (DISC1) NP_001158028.1:p.His80ProfsTer3
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