Linked Data
dbSNP Id:
rs761344861
ExAC:
1:92731958 GC / G
gnomAD v2:
1-92731958-GC-G
gnomAD v4:
1-92266401-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266403del , CM000663.2:g.92266403del | GRCh38 |
| NC_000001.10:g.92731960del , CM000663.1:g.92731960del | GRCh37 |
| NC_000001.9:g.92504548del | NCBI36 |
| NG_009796.1:g.37608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1214+17del MANE Select | ENSP00000359385.3:n.1214+17del | |
| ENST00000370360.7:c.1214+17del | ENSP00000359385.3:n.1214+17del | |
| ENST00000463560.1:c.562+138del | ||
| ENST00000495106.5:c.1214+17del | ENSP00000436829.1:n.1214+17del | |
| ENST00000495852.6:c.437+17del | ENSP00000469157.2:n.437+17del | |
| NM_053274.2:c.1214+17del | NP_444504.1:n.1214+17del | |
| XM_005270400.1:c.1172+17del | XP_005270457.1:n.1172+17del | |
| XM_005270401.2:c.1088+17del | XP_005270458.1:n.1088+17del | |
| XM_006710309.1:c.713+17del | XP_006710372.1:n.713+17del | |
| XM_011540544.1:c.1214+17del | XP_011538846.1:n.1214+17del | |
| XM_011540545.1:c.1214+17del | XP_011538847.1:n.1214+17del | |
| XM_011540546.1:c.1214+17del | XP_011538848.1:n.1214+17del | |
| XR_946529.1:n.1309+138del | ||
| NM_001319683.1:c.1172+17del | NP_001306612.1:n.1172+17del | |
| NR_135089.1:n.1329+17del | ||
| XM_005270401.3:c.1088+17del | XP_005270458.1:n.1088+17del | |
| XM_006710309.2:c.713+17del | XP_006710372.1:n.713+17del | |
| XM_011540546.2:c.1214+17del | XP_011538848.1:n.1214+17del | |
| XM_017000137.1:c.1313+17del | XP_016855626.1:n.1313+17del | |
| XM_017000138.1:c.1271+17del | XP_016855627.1:n.1271+17del | |
| XM_017000139.1:c.1293+138del | XP_016855628.1:n.1293+138del | |
| XM_017000140.1:c.1187+17del | XP_016855629.1:n.1187+17del | |
| XM_017000141.1:c.1194+138del | XP_016855630.1:n.1194+138del | |
| XM_017000142.1:c.671+17del | XP_016855631.1:n.671+17del | |
| XM_017000143.1:c.671+17del | XP_016855632.1:n.671+17del | |
| XM_017000144.1:c.443+17del | XP_016855633.1:n.443+17del | |
| XR_002959248.1:n.1677+138del | ||
| XR_002959249.1:n.1309+138del | ||
| NM_053274.3:c.1214+17del MANE Select | NP_444504.1:n.1214+17del | |
| NM_001319683.2:c.1172+17del | NP_001306612.1:n.1172+17del | |
| NR_135089.2:n.1307+17del |