Linked Data
dbSNP Id:
rs1370004175
gnomAD v2:
11-8123384-TGAGAATAA-T
gnomAD v3:
11-8101837-TGAGAATAA-T
gnomAD v4:
11-8101837-TGAGAATAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101838_8101845del , CM000673.2:g.8101838_8101845del | GRCh38 |
| NC_000011.9:g.8123385_8123392del , CM000673.1:g.8123385_8123392del | GRCh37 |
| NC_000011.8:g.8079961_8079968del | NCBI36 |
| NG_029912.1:g.68206_68213del | |
| NG_030416.2:g.72199_72206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.*219_*226del (TUB) MANE Select | ENSP00000299506.3:n.*219_*226del | |
| ENST00000299506.2:c.*219_*226del (TUB) | ENSP00000299506.2:n.*219_*226del | |
| ENST00000305253.8:c.*219_*226del (TUB) | ENSP00000305426.4:n.*219_*226del | |
| NM_003320.4:c.*219_*226del (TUB) | NP_003311.2:n.*219_*226del | |
| NM_177972.2:c.*219_*226del (TUB) | NP_813977.1:n.*219_*226del | |
| XM_005253109.2:c.*219_*226del (TUB) | XP_005253166.1:n.*219_*226del | |
| XM_011520344.1:c.*219_*226del (TUB) | XP_011518646.1:n.*219_*226del | |
| XR_428851.2:n.1484-7686_1484-7679del (RIC3) | ||
| XR_930896.1:n.1546+5490_1546+5497del (RIC3) | ||
| XR_930900.1:n.1547-4123_1547-4116del (RIC3) | ||
| NR_144485.1:n.1519+5490_1519+5497del (RIC3) | ||
| XM_005253109.3:c.*219_*226del (TUB) | XP_005253166.1:n.*219_*226del | |
| XM_011520344.2:c.*219_*226del (TUB) | XP_011518646.1:n.*219_*226del | |
| XR_001747957.2:n.1335-7686_1335-7679del (RIC3) | ||
| XR_428851.4:n.1422-7686_1422-7679del (RIC3) | ||
| XR_930896.3:n.1484+5490_1484+5497del (RIC3) | ||
| XR_930900.3:n.1485-4123_1485-4116del (RIC3) | ||
| NM_177972.3:c.*219_*226del (TUB) MANE Select | NP_813977.1:n.*219_*226del | |
| NR_144485.2:n.1450+5490_1450+5497del (RIC3) | ||
| NM_003320.5:c.*219_*226del (TUB) | NP_003311.2:n.*219_*226del |