Linked Data
ClinVar Variation Id:
512579
dbSNP Id:
rs748639289
ExAC:
7:99702841 GTCTC / G
gnomAD v2:
7-99702841-GTCTC-G
gnomAD v3:
7-100105218-GTCTC-G
gnomAD v4:
7-100105218-GTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100105230_100105233del , CM000669.2:g.100105230_100105233del | GRCh38 |
| NC_000007.13:g.99702853_99702856del , CM000669.1:g.99702853_99702856del | GRCh37 |
| NC_000007.12:g.99540789_99540792del | NCBI36 |
| NG_016312.1:g.8724_8727del | |
| NG_029454.1:g.19637_19640del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.728-10_728-7del | ENSP00000393723.2:n.728-10_728-7del | |
| ENST00000495154.2:n.987-10_987-7del | ||
| ENST00000713591.1:c.728-10_728-7del | ENSP00000518888.1:n.728-10_728-7del | |
| ENST00000359593.9:c.728-10_728-7del MANE Select | ENSP00000352603.4:n.728-10_728-7del | |
| ENST00000359593.8:c.728-10_728-7del | ENSP00000352603.4:n.728-10_728-7del | |
| ENST00000416938.5:c.617-10_617-7del | ||
| ENST00000421755.5:c.728-10_728-7del | ENSP00000412185.1:n.728-10_728-7del | |
| ENST00000422582.5:c.344-10_344-7del | ENSP00000406676.1:n.344-10_344-7del | |
| ENST00000429084.5:c.749-10_749-7del | ENSP00000403663.1:n.749-10_749-7del | |
| ENST00000438383.5:c.524-10_524-7del | ENSP00000401613.1:n.524-10_524-7del | |
| ENST00000439416.5:c.596-10_596-7del | ENSP00000414286.1:n.596-10_596-7del | |
| ENST00000445208.5:c.*337-10_*337-7del | ENSP00000400598.1:n.*337-10_*337-7del | |
| ENST00000446007.5:c.607-10_607-7del | ENSP00000396928.1:n.607-10_607-7del | |
| ENST00000463195.5:n.735-10_735-7del | ||
| ENST00000479916.1:n.310-10_310-7del | ||
| NM_004722.3:c.728-10_728-7del | NP_004713.2:n.728-10_728-7del | |
| XM_005250689.3:c.749-10_749-7del | XP_005250746.1:n.749-10_749-7del | |
| XM_005250690.3:c.524-10_524-7del | XP_005250747.1:n.524-10_524-7del | |
| XM_006716175.2:c.749-10_749-7del | XP_006716238.1:n.749-10_749-7del | |
| XM_011516685.1:c.749-10_749-7del | XP_011514987.1:n.749-10_749-7del | |
| XM_011516686.1:c.344-10_344-7del | XP_011514988.1:n.344-10_344-7del | |
| XM_011516687.1:c.53-10_53-7del | XP_011514989.1:n.53-10_53-7del | |
| NM_001363671.1:c.749-10_749-7del | NP_001350600.1:n.749-10_749-7del | |
| XM_005250689.4:c.749-10_749-7del | XP_005250746.1:n.749-10_749-7del | |
| XM_005250690.4:c.524-10_524-7del | XP_005250747.1:n.524-10_524-7del | |
| XM_006716175.4:c.749-10_749-7del | XP_006716238.1:n.749-10_749-7del | |
| XM_017012790.2:c.344-10_344-7del | XP_016868279.1:n.344-10_344-7del | |
| XM_017012791.2:c.53-10_53-7del | XP_016868280.1:n.53-10_53-7del | |
| XM_024446995.1:c.728-10_728-7del | XP_024302763.1:n.728-10_728-7del | |
| XM_024446996.1:c.53-10_53-7del | XP_024302764.1:n.53-10_53-7del | |
| NM_004722.4:c.728-10_728-7del MANE Select | NP_004713.2:n.728-10_728-7del | |
| NM_001363671.2:c.749-10_749-7del | NP_001350600.1:n.749-10_749-7del |