Canonical Allele Identifier: CA2651016869

Gene: DISC1 TSNAX-DISC1

Linked Data

• gnomAD v4: 1-231767264-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231767265_231767266insGT , CM000663.2:g.231767265_231767266insGT	GRCh38
NC_000001.10:g.231903011_231903012insGT , CM000663.1:g.231903011_231903012insGT	GRCh37
NC_000001.9:g.229969634_229969635insGT	NCBI36
NG_011681.1:g.145451_145452insGT
NG_011681.2:g.145451_145452insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366637.8:c.1394_1395insGT (DISC1)	ENSP00000355597.6:p.Gln466TyrfsTer22
ENST00000439617.8:c.1394_1395insGT (DISC1) MANE Select	ENSP00000403888.4:p.Gln466TyrfsTer22
ENST00000644515.1:c.*1540_*1541insGT (TSNAX-DISC1)	ENSP00000496433.1:n.*1540_*1541insGT
ENST00000646525.1:c.*1540_*1541insGT (TSNAX-DISC1)	ENSP00000494923.1:n.*1540_*1541insGT
ENST00000295051.11:c.1394_1395insGT (DISC1)	ENSP00000295051.7:p.Gln466TyrfsTer22
ENST00000366632.6:c.*94_*95insGT (DISC1)	ENSP00000355592.2:n.*94_*95insGT
ENST00000366633.7:c.1394_1395insGT (DISC1)	ENSP00000355593.3:p.Gln466TyrfsTer22
ENST00000366636.8:c.1394_1395insGT (DISC1)	ENSP00000355596.4:p.Gln466TyrfsTer22
ENST00000366637.7:c.1394_1395insGT (DISC1)	ENSP00000355597.5:p.Gln466TyrfsTer22
ENST00000422590.6:c.*1255_*1256insGT (DISC1)	ENSP00000415147.2:n.*1255_*1256insGT
ENST00000439617.6:c.1394_1395insGT (DISC1)	ENSP00000403888.2:p.Gln466TyrfsTer22
ENST00000535944.5:c.1394_1395insGT (DISC1)	ENSP00000441193.1:p.Gln466TyrfsTer22
ENST00000535983.5:c.1394_1395insGT (DISC1)	ENSP00000443996.1:p.Gln466TyrfsTer22
ENST00000537876.5:c.1394_1395insGT (DISC1)	ENSP00000440909.2:p.Gln466TyrfsTer22
ENST00000539444.5:c.1394_1395insGT (DISC1)	ENSP00000440953.1:p.Gln466TyrfsTer22
ENST00000602281.5:c.1394_1395insGT (DISC1)	ENSP00000473425.1:p.Gln466TyrfsTer22
ENST00000602567.1:c.*1524_*1525insGT (TSNAX-DISC1)	ENSP00000473456.1:n.*1524_*1525insGT
ENST00000602634.5:c.*1540_*1541insGT (TSNAX-DISC1)	ENSP00000473307.1:n.*1540_*1541insGT
ENST00000602700.5:c.*253_*254insGT (DISC1)	ENSP00000473417.1:n.*253_*254insGT
ENST00000602713.5:c.*253_*254insGT (DISC1)	ENSP00000473261.1:n.*253_*254insGT
ENST00000602822.5:c.*253_*254insGT (DISC1)	ENSP00000473586.1:n.*253_*254insGT
ENST00000602873.5:c.344_345insGT (DISC1)	ENSP00000473386.1:p.Gln116TyrfsTer22
ENST00000602885.5:c.*1453_*1454insGT (TSNAX-DISC1)	ENSP00000473476.1:n.*1453_*1454insGT
ENST00000602956.5:c.*1255_*1256insGT (TSNAX-DISC1)	ENSP00000473532.1:n.*1255_*1256insGT
ENST00000602962.5:c.*1524_*1525insGT (TSNAX-DISC1)	ENSP00000473367.1:n.*1524_*1525insGT
ENST00000620189.3:c.1268+17189_1268+17190insGT (DISC1)	ENSP00000482174.1:n.1268+17189_1268+17190insGT
ENST00000622252.4:c.1269-3570_1269-3569insGT (DISC1)	ENSP00000481791.1:n.1269-3570_1269-3569insGT
ENST00000628350.2:c.1394_1395insGT (DISC1)	ENSP00000487190.1:p.Gln466TyrfsTer22
NM_001012957.1:c.1394_1395insGT (DISC1)	NP_001012975.1:p.Gln466TyrfsTer22
NM_001012959.1:c.1394_1395insGT (DISC1)	NP_001012977.1:p.Gln466TyrfsTer22
NM_001164537.1:c.1490_1491insGT (DISC1)	NP_001158009.1:p.Gln498TyrfsTer22
NM_001164538.1:c.1394_1395insGT (DISC1)	NP_001158010.1:p.Gln466TyrfsTer22
NM_001164539.1:c.1394_1395insGT (DISC1)	NP_001158011.1:p.Gln466TyrfsTer22
NM_001164540.1:c.1268+17189_1268+17190insGT (DISC1)	NP_001158012.1:n.1268+17189_1268+17190insGT
NM_001164541.1:c.1394_1395insGT (DISC1)	NP_001158013.1:p.Gln466TyrfsTer22
NM_001164542.1:c.1394_1395insGT (DISC1)	NP_001158014.1:p.Gln466TyrfsTer22
NM_001164544.1:c.1394_1395insGT (DISC1)	NP_001158016.1:p.Gln466TyrfsTer22
NM_001164545.1:c.1394_1395insGT (DISC1)	NP_001158017.1:p.Gln466TyrfsTer22
NM_001164546.1:c.1394_1395insGT (DISC1)	NP_001158018.1:p.Gln466TyrfsTer22
NM_001164547.1:c.1394_1395insGT (DISC1)	NP_001158019.1:p.Gln466TyrfsTer22
NM_001164548.1:c.1394_1395insGT (DISC1)	NP_001158020.1:p.Gln466TyrfsTer22
NM_001164549.1:c.1394_1395insGT (DISC1)	NP_001158021.1:p.Gln466TyrfsTer22
NM_001164556.1:c.344_345insGT (DISC1)	NP_001158028.1:p.Gln116TyrfsTer22
NM_018662.2:c.1394_1395insGT (DISC1)	NP_061132.2:p.Gln466TyrfsTer22
NR_028393.1:n.2115_2116insGT (TSNAX-DISC1)
NR_028394.1:n.2243_2244insGT (TSNAX-DISC1)
NR_028395.1:n.2243_2244insGT (TSNAX-DISC1)
NR_028396.1:n.2115_2116insGT (TSNAX-DISC1)
NR_028397.1:n.1980_1981insGT (TSNAX-DISC1)
NR_028398.1:n.1734_1735insGT (TSNAX-DISC1)
NM_001012957.2:c.1394_1395insGT (DISC1)	NP_001012975.1:p.Gln466TyrfsTer22
NM_001012959.2:c.1394_1395insGT (DISC1)	NP_001012977.1:p.Gln466TyrfsTer22
NM_001164537.2:c.1490_1491insGT (DISC1)	NP_001158009.1:p.Gln498TyrfsTer22
NM_001164538.2:c.1394_1395insGT (DISC1)	NP_001158010.1:p.Gln466TyrfsTer22
NM_001164539.2:c.1394_1395insGT (DISC1)	NP_001158011.1:p.Gln466TyrfsTer22
NM_001164540.2:c.1268+17189_1268+17190insGT (DISC1)	NP_001158012.1:n.1268+17189_1268+17190insGT
NM_001164541.2:c.1394_1395insGT (DISC1)	NP_001158013.1:p.Gln466TyrfsTer22
NM_001164542.2:c.1394_1395insGT (DISC1)	NP_001158014.1:p.Gln466TyrfsTer22
NM_001164546.2:c.1394_1395insGT (DISC1)	NP_001158018.1:p.Gln466TyrfsTer22
NM_001164547.2:c.1394_1395insGT (DISC1)	NP_001158019.1:p.Gln466TyrfsTer22
NM_001164549.2:c.1394_1395insGT (DISC1)	NP_001158021.1:p.Gln466TyrfsTer22
NM_018662.3:c.1394_1395insGT (DISC1) MANE Select	NP_061132.2:p.Gln466TyrfsTer22
NM_001164544.2:c.1394_1395insGT (DISC1)	NP_001158016.1:p.Gln466TyrfsTer22
NM_001164545.2:c.1394_1395insGT (DISC1)	NP_001158017.1:p.Gln466TyrfsTer22
NM_001164548.2:c.1394_1395insGT (DISC1)	NP_001158020.1:p.Gln466TyrfsTer22
NM_001164556.2:c.344_345insGT (DISC1)	NP_001158028.1:p.Gln116TyrfsTer22