Linked Data
ClinVar Variation Id:
7807
dbSNP Id:
rs773442562
ExAC:
1:92732008 CTTG / C
gnomAD v2:
1-92732008-CTTG-C
gnomAD v3:
1-92266451-CTTG-C
gnomAD v4:
1-92266451-CTTG-C
PubMed:
PMID:11845407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266454_92266456del , CM000663.2:g.92266454_92266456del | GRCh38 |
| NC_000001.10:g.92732011_92732013del , CM000663.1:g.92732011_92732013del | GRCh37 |
| NC_000001.9:g.92504599_92504601del | NCBI36 |
| NG_009796.1:g.37556_37558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1179_1181del MANE Select | ENSP00000359385.3:p.Asn393del | |
| ENST00000370360.7:c.1179_1181del | ENSP00000359385.3:p.Asn393del | |
| ENST00000463560.1:c.562+86_562+88del | ||
| ENST00000495106.5:c.1179_1181del | ENSP00000436829.1:p.Asn393del | |
| ENST00000495852.6:c.402_404del | ENSP00000469157.2:p.Asn134del | |
| NM_053274.2:c.1179_1181del | NP_444504.1:p.Asn393del | |
| XM_005270400.1:c.1137_1139del | XP_005270457.1:p.Asn379del | |
| XM_005270401.2:c.1053_1055del | XP_005270458.1:p.Asn351del | |
| XM_006710309.1:c.678_680del | XP_006710372.1:p.Asn226del | |
| XM_011540544.1:c.1179_1181del | XP_011538846.1:p.Asn393del | |
| XM_011540545.1:c.1179_1181del | XP_011538847.1:p.Asn393del | |
| XM_011540546.1:c.1179_1181del | XP_011538848.1:p.Asn393del | |
| XR_946529.1:n.1309+86_1309+88del | ||
| NM_001319683.1:c.1137_1139del | NP_001306612.1:p.Asn379del | |
| NR_135089.1:n.1294_1296del | ||
| XM_005270401.3:c.1053_1055del | XP_005270458.1:p.Asn351del | |
| XM_006710309.2:c.678_680del | XP_006710372.1:p.Asn226del | |
| XM_011540546.2:c.1179_1181del | XP_011538848.1:p.Asn393del | |
| XM_017000137.1:c.1278_1280del | XP_016855626.1:p.Asn426del | |
| XM_017000138.1:c.1236_1238del | XP_016855627.1:p.Asn412del | |
| XM_017000139.1:c.1293+86_1293+88del | XP_016855628.1:n.1293+86_1293+88del | |
| XM_017000140.1:c.1152_1154del | XP_016855629.1:p.Asn384del | |
| XM_017000141.1:c.1194+86_1194+88del | XP_016855630.1:n.1194+86_1194+88del | |
| XM_017000142.1:c.636_638del | XP_016855631.1:p.Asn212del | |
| XM_017000143.1:c.636_638del | XP_016855632.1:p.Asn212del | |
| XM_017000144.1:c.408_410del | XP_016855633.1:p.Asn136del | |
| XR_002959248.1:n.1677+86_1677+88del | ||
| XR_002959249.1:n.1309+86_1309+88del | ||
| NM_053274.3:c.1179_1181del MANE Select | NP_444504.1:p.Asn393del | |
| NM_001319683.2:c.1137_1139del | NP_001306612.1:p.Asn379del | |
| NR_135089.2:n.1272_1274del |