Canonical Allele Identifier: CA1453873

Gene: DISC1 TSNAX-DISC1

Linked Data

• dbSNP Id: rs771321623
• ExAC: 1:231902903 CCCACA / C
• gnomAD v2: 1-231902903-CCCACA-C
• gnomAD v4: 1-231767157-CCCACA-C
• MyVariant Identifiers: chr1:g.231902904_231902908del (hg19) ; chr1:g.231767158_231767162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231767160_231767164del , CM000663.2:g.231767160_231767164del	GRCh38
NC_000001.10:g.231902906_231902910del , CM000663.1:g.231902906_231902910del	GRCh37
NC_000001.9:g.229969529_229969533del	NCBI36
NG_011681.1:g.145346_145350del
NG_011681.2:g.145346_145350del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366637.8:c.1289_1293del (DISC1)	ENSP00000355597.6:p.His430ProfsTer?
ENST00000439617.8:c.1289_1293del (DISC1) MANE Select	ENSP00000403888.4:p.His430ProfsTer?
ENST00000644515.1:c.*1435_*1439del (TSNAX-DISC1)	ENSP00000496433.1:n.*1435_*1439del
ENST00000646525.1:c.*1435_*1439del (TSNAX-DISC1)	ENSP00000494923.1:n.*1435_*1439del
ENST00000295051.11:c.1289_1293del (DISC1)	ENSP00000295051.7:p.His430ProfsTer?
ENST00000366632.6:c.1138_1142del (DISC1)	ENSP00000355592.2:p.Thr380ProfsTer?
ENST00000366633.7:c.1289_1293del (DISC1)	ENSP00000355593.3:p.His430ProfsTer?
ENST00000366636.8:c.1289_1293del (DISC1)	ENSP00000355596.4:p.His430ProfsTer?
ENST00000366637.7:c.1289_1293del (DISC1)	ENSP00000355597.5:p.His430ProfsTer?
ENST00000422590.6:c.*1150_*1154del (DISC1)	ENSP00000415147.2:n.*1150_*1154del
ENST00000439617.6:c.1289_1293del (DISC1)	ENSP00000403888.2:p.His430ProfsTer?
ENST00000535944.5:c.1289_1293del (DISC1)	ENSP00000441193.1:p.His430ProfsTer?
ENST00000535983.5:c.1289_1293del (DISC1)	ENSP00000443996.1:p.His430ProfsTer?
ENST00000537876.5:c.1289_1293del (DISC1)	ENSP00000440909.2:p.His430ProfsTer?
ENST00000539444.5:c.1289_1293del (DISC1)	ENSP00000440953.1:p.His430ProfsTer?
ENST00000602281.5:c.1289_1293del (DISC1)	ENSP00000473425.1:p.His430ProfsTer?
ENST00000602567.1:c.*1419_*1423del (TSNAX-DISC1)	ENSP00000473456.1:n.*1419_*1423del
ENST00000602634.5:c.*1435_*1439del (TSNAX-DISC1)	ENSP00000473307.1:n.*1435_*1439del
ENST00000602700.5:c.*148_*152del (DISC1)	ENSP00000473417.1:n.*148_*152del
ENST00000602713.5:c.*148_*152del (DISC1)	ENSP00000473261.1:n.*148_*152del
ENST00000602822.5:c.*148_*152del (DISC1)	ENSP00000473586.1:n.*148_*152del
ENST00000602873.5:c.239_243del (DISC1)	ENSP00000473386.1:p.His80ProfsTer?
ENST00000602885.5:c.*1348_*1352del (TSNAX-DISC1)	ENSP00000473476.1:n.*1348_*1352del
ENST00000602956.5:c.*1150_*1154del (TSNAX-DISC1)	ENSP00000473532.1:n.*1150_*1154del
ENST00000602962.5:c.*1419_*1423del (TSNAX-DISC1)	ENSP00000473367.1:n.*1419_*1423del
ENST00000620189.3:c.1268+17084_1268+17088del (DISC1)	ENSP00000482174.1:n.1268+17084_1268+17088...
ENST00000622252.4:c.1269-3675_1269-3671del (DISC1)	ENSP00000481791.1:n.1269-3675_1269-3671de...
ENST00000628350.2:c.1289_1293del (DISC1)	ENSP00000487190.1:p.His430ProfsTer?
NM_001012957.1:c.1289_1293del (DISC1)	NP_001012975.1:p.His430ProfsTer?
NM_001012959.1:c.1289_1293del (DISC1)	NP_001012977.1:p.His430ProfsTer?
NM_001164537.1:c.1385_1389del (DISC1)	NP_001158009.1:p.His462ProfsTer?
NM_001164538.1:c.1289_1293del (DISC1)	NP_001158010.1:p.His430ProfsTer?
NM_001164539.1:c.1289_1293del (DISC1)	NP_001158011.1:p.His430ProfsTer?
NM_001164540.1:c.1268+17084_1268+17088del (DISC1)	NP_001158012.1:n.1268+17084_1268+17088del...
NM_001164541.1:c.1289_1293del (DISC1)	NP_001158013.1:p.His430ProfsTer?
NM_001164542.1:c.1289_1293del (DISC1)	NP_001158014.1:p.His430ProfsTer?
NM_001164544.1:c.1289_1293del (DISC1)	NP_001158016.1:p.His430ProfsTer?
NM_001164545.1:c.1289_1293del (DISC1)	NP_001158017.1:p.His430ProfsTer?
NM_001164546.1:c.1289_1293del (DISC1)	NP_001158018.1:p.His430ProfsTer?
NM_001164547.1:c.1289_1293del (DISC1)	NP_001158019.1:p.His430ProfsTer?
NM_001164548.1:c.1289_1293del (DISC1)	NP_001158020.1:p.His430ProfsTer?
NM_001164549.1:c.1289_1293del (DISC1)	NP_001158021.1:p.His430ProfsTer?
NM_001164556.1:c.239_243del (DISC1)	NP_001158028.1:p.His80ProfsTer?
NM_018662.2:c.1289_1293del (DISC1)	NP_061132.2:p.His430ProfsTer?
NR_028393.1:n.2010_2014del (TSNAX-DISC1)
NR_028394.1:n.2138_2142del (TSNAX-DISC1)
NR_028395.1:n.2138_2142del (TSNAX-DISC1)
NR_028396.1:n.2010_2014del (TSNAX-DISC1)
NR_028397.1:n.1875_1879del (TSNAX-DISC1)
NR_028398.1:n.1629_1633del (TSNAX-DISC1)
NM_001012957.2:c.1289_1293del (DISC1)	NP_001012975.1:p.His430ProfsTer?
NM_001012959.2:c.1289_1293del (DISC1)	NP_001012977.1:p.His430ProfsTer?
NM_001164537.2:c.1385_1389del (DISC1)	NP_001158009.1:p.His462ProfsTer?
NM_001164538.2:c.1289_1293del (DISC1)	NP_001158010.1:p.His430ProfsTer?
NM_001164539.2:c.1289_1293del (DISC1)	NP_001158011.1:p.His430ProfsTer?
NM_001164540.2:c.1268+17084_1268+17088del (DISC1)	NP_001158012.1:n.1268+17084_1268+17088del...
NM_001164541.2:c.1289_1293del (DISC1)	NP_001158013.1:p.His430ProfsTer?
NM_001164542.2:c.1289_1293del (DISC1)	NP_001158014.1:p.His430ProfsTer?
NM_001164546.2:c.1289_1293del (DISC1)	NP_001158018.1:p.His430ProfsTer?
NM_001164547.2:c.1289_1293del (DISC1)	NP_001158019.1:p.His430ProfsTer?
NM_001164549.2:c.1289_1293del (DISC1)	NP_001158021.1:p.His430ProfsTer?
NM_018662.3:c.1289_1293del (DISC1) MANE Select	NP_061132.2:p.His430ProfsTer?
NM_001164544.2:c.1289_1293del (DISC1)	NP_001158016.1:p.His430ProfsTer?
NM_001164545.2:c.1289_1293del (DISC1)	NP_001158017.1:p.His430ProfsTer?
NM_001164548.2:c.1289_1293del (DISC1)	NP_001158020.1:p.His430ProfsTer?
NM_001164556.2:c.239_243del (DISC1)	NP_001158028.1:p.His80ProfsTer?