Linked Data
dbSNP Id:
rs200257560
gnomAD v2:
1-51832488-A-AT
gnomAD v3:
1-51366816-A-AT
gnomAD v4:
1-51366816-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.51366822dup , CM000663.2:g.51366822dup | GRCh38 |
| NC_000001.10:g.51832494dup , CM000663.1:g.51832494dup | GRCh37 |
| NC_000001.9:g.51605082dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493793.2:c.1178-788dup | ENSP00000516332.1:n.1178-788dup | |
| ENST00000706287.1:c.1697-788dup | ENSP00000516333.1:n.1697-788dup | |
| ENST00000706288.1:c.2030-788dup | ENSP00000516334.1:n.2030-788dup | |
| ENST00000706289.1:n.1366-788dup | ||
| ENST00000706290.1:n.1623-788dup | ||
| ENST00000706291.1:c.*1068-788dup | ENSP00000516335.1:n.*1068-788dup | |
| ENST00000706292.1:c.2231-788dup | ENSP00000516336.1:n.2231-788dup | |
| ENST00000371733.8:c.2120-788dup MANE Select | ENSP00000360798.3:n.2120-788dup | |
| ENST00000371730.6:c.1718-788dup | ENSP00000360795.2:n.1718-788dup | |
| ENST00000371733.7:c.2120-788dup | ENSP00000360798.3:n.2120-788dup | |
| NM_001159969.1:c.1178-788dup | NP_001153441.1:n.1178-788dup | |
| NM_001981.2:c.2120-788dup | NP_001972.1:n.2120-788dup | |
| XM_005270618.1:c.2030-788dup | XP_005270675.1:n.2030-788dup | |
| XM_006710446.1:c.1406-788dup | XP_006710509.1:n.1406-788dup | |
| XM_011540991.1:c.1556-788dup | XP_011539293.1:n.1556-788dup | |
| XM_005270618.3:c.2030-788dup | XP_005270675.1:n.2030-788dup | |
| XM_017000615.2:c.2231-788dup | XP_016856104.1:n.2231-788dup | |
| XM_017000616.2:c.2027-788dup | XP_016856105.1:n.2027-788dup | |
| XM_017000617.2:c.1916-788dup | XP_016856106.1:n.1916-788dup | |
| XM_017000618.2:c.1826-788dup | XP_016856107.1:n.1826-788dup | |
| XM_017000619.2:c.1556-788dup | XP_016856108.1:n.1556-788dup | |
| XM_017000620.2:c.1406-788dup | XP_016856109.1:n.1406-788dup | |
| NM_001981.3:c.2120-788dup MANE Select | NP_001972.1:n.2120-788dup | |
| NM_001159969.2:c.1178-788dup | NP_001153441.1:n.1178-788dup |