Linked Data
dbSNP Id:
rs751594770
gnomAD v2:
1-231963383-AAG-A
gnomAD v3:
1-231827637-AAG-A
gnomAD v4:
1-231827637-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231827646_231827647del , CM000663.2:g.231827646_231827647del | GRCh38 |
| NC_000001.10:g.231963392_231963393del , CM000663.1:g.231963392_231963393del | GRCh37 |
| NC_000001.9:g.230030015_230030016del | NCBI36 |
| NG_011681.1:g.205832_205833del | |
| NG_011681.2:g.205832_205833del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.1981+9129_1981+9130del (DISC1) | ENSP00000355597.6:n.1981+9129_1981+9130de... | |
| ENST00000439617.8:c.1981+9129_1981+9130del (DISC1) MANE Select | ENSP00000403888.4:n.1981+9129_1981+9130de... | |
| ENST00000366632.6:c.*681+9129_*681+9130del (DISC1) | ENSP00000355592.2:n.*681+9129_*681+9130de... | |
| ENST00000366633.7:c.1981+9129_1981+9130del (DISC1) | ENSP00000355593.3:n.1981+9129_1981+9130de... | |
| ENST00000366636.8:c.1981+9129_1981+9130del (DISC1) | ENSP00000355596.4:n.1981+9129_1981+9130de... | |
| ENST00000366637.7:c.1981+9129_1981+9130del (DISC1) | ENSP00000355597.5:n.1981+9129_1981+9130de... | |
| ENST00000422590.6:c.*1842+9129_*1842+9130del (DISC1) | ENSP00000415147.2:n.*1842+9129_*1842+9130... | |
| ENST00000427560.1:n.246+8496_246+8497del (DISC1) | ||
| ENST00000439617.6:c.1981+9129_1981+9130del (DISC1) | ENSP00000403888.2:n.1981+9129_1981+9130de... | |
| ENST00000535983.5:c.1981+9129_1981+9130del (DISC1) | ENSP00000443996.1:n.1981+9129_1981+9130de... | |
| ENST00000537876.5:c.*264+9129_*264+9130del (DISC1) | ENSP00000440909.2:n.*264+9129_*264+9130de... | |
| ENST00000602713.5:c.*840+9129_*840+9130del (DISC1) | ENSP00000473261.1:n.*840+9129_*840+9130de... | |
| ENST00000620189.3:c.1615+9129_1615+9130del (DISC1) | ENSP00000482174.1:n.1615+9129_1615+9130de... | |
| ENST00000622252.4:c.*522+9129_*522+9130del (DISC1) | ENSP00000481791.1:n.*522+9129_*522+9130de... | |
| ENST00000628350.2:c.1634+56576_1634+56577del (DISC1) | ENSP00000487190.1:n.1634+56576_1634+56577... | |
| NM_001012957.1:c.1981+9129_1981+9130del (DISC1) | NP_001012975.1:n.1981+9129_1981+9130del | |
| NM_001012959.1:c.1981+9129_1981+9130del (DISC1) | NP_001012977.1:n.1981+9129_1981+9130del | |
| NM_001164537.1:c.2077+9129_2077+9130del (DISC1) | NP_001158009.1:n.2077+9129_2077+9130del | |
| NM_001164538.1:c.1981+9129_1981+9130del (DISC1) | NP_001158010.1:n.1981+9129_1981+9130del | |
| NM_001164539.1:c.1981+9129_1981+9130del (DISC1) | NP_001158011.1:n.1981+9129_1981+9130del | |
| NM_001164540.1:c.1615+9129_1615+9130del (DISC1) | NP_001158012.1:n.1615+9129_1615+9130del | |
| NM_001164541.1:c.1981+9129_1981+9130del (DISC1) | NP_001158013.1:n.1981+9129_1981+9130del | |
| NM_001164542.1:c.1981+9129_1981+9130del (DISC1) | NP_001158014.1:n.1981+9129_1981+9130del | |
| NM_001164546.1:c.1634+56576_1634+56577del (DISC1) | NP_001158018.1:n.1634+56576_1634+56577del... | |
| NM_001164547.1:c.1634+56576_1634+56577del (DISC1) | NP_001158019.1:n.1634+56576_1634+56577del... | |
| NM_018662.2:c.1981+9129_1981+9130del (DISC1) | NP_061132.2:n.1981+9129_1981+9130del | |
| NR_028393.1:n.2647+9129_2647+9130del (TSNAX-DISC1) | ||
| XR_949268.1:n.1270-4805_1270-4804del | ||
| XR_949269.1:n.1057-13348_1057-13347del | ||
| XR_949268.3:n.215-4805_215-4804del | ||
| XR_949269.2:n.215-13348_215-13347del | ||
| NM_001012957.2:c.1981+9129_1981+9130del (DISC1) | NP_001012975.1:n.1981+9129_1981+9130del | |
| NM_001012959.2:c.1981+9129_1981+9130del (DISC1) | NP_001012977.1:n.1981+9129_1981+9130del | |
| NM_001164537.2:c.2077+9129_2077+9130del (DISC1) | NP_001158009.1:n.2077+9129_2077+9130del | |
| NM_001164538.2:c.1981+9129_1981+9130del (DISC1) | NP_001158010.1:n.1981+9129_1981+9130del | |
| NM_001164539.2:c.1981+9129_1981+9130del (DISC1) | NP_001158011.1:n.1981+9129_1981+9130del | |
| NM_001164540.2:c.1615+9129_1615+9130del (DISC1) | NP_001158012.1:n.1615+9129_1615+9130del | |
| NM_001164541.2:c.1981+9129_1981+9130del (DISC1) | NP_001158013.1:n.1981+9129_1981+9130del | |
| NM_001164542.2:c.1981+9129_1981+9130del (DISC1) | NP_001158014.1:n.1981+9129_1981+9130del | |
| NM_001164546.2:c.1634+56576_1634+56577del (DISC1) | NP_001158018.1:n.1634+56576_1634+56577del... | |
| NM_001164547.2:c.1634+56576_1634+56577del (DISC1) | NP_001158019.1:n.1634+56576_1634+56577del... | |
| NM_018662.3:c.1981+9129_1981+9130del (DISC1) MANE Select | NP_061132.2:n.1981+9129_1981+9130del |