Linked Data
ClinVar Variation Id:
1552014
ClinVar RCV Id:
RCV002178097
dbSNP Id:
rs763572119
ExAC:
3:12641791 GAC / G
gnomAD v2:
3-12641791-GAC-G
gnomAD v3:
3-12600292-GAC-G
gnomAD v4:
3-12600292-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600294_12600295del , CM000665.2:g.12600294_12600295del | GRCh38 |
| NC_000003.11:g.12641793_12641794del , CM000665.1:g.12641793_12641794del | GRCh37 |
| NC_000003.10:g.12616793_12616794del | NCBI36 |
| NG_007467.1:g.68886_68887del , LRG_413:g.68886_68887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*540-27_*540-26del | ENSP00000401088.1:n.*540-27_*540-26del | |
| ENST00000432427.3:c.183-15_183-14del | ||
| ENST00000465826.6:n.454-15_454-14del | ||
| ENST00000491290.2:n.1240-15_1240-14del | ||
| ENST00000684903.1:c.*540-15_*540-14del | ENSP00000508612.1:n.*540-15_*540-14del | |
| ENST00000685348.1:c.*540-15_*540-14del | ENSP00000510285.1:n.*540-15_*540-14del | |
| ENST00000685437.1:c.764-15_764-14del | ENSP00000508794.1:n.764-15_764-14del | |
| ENST00000685438.1:n.627-15_627-14del | ||
| ENST00000685653.1:c.863-15_863-14del | ENSP00000509968.1:n.863-15_863-14del | |
| ENST00000685738.1:c.863-15_863-14del | ENSP00000510156.1:n.863-15_863-14del | |
| ENST00000686409.1:n.1556_1557del | ||
| ENST00000686455.1:n.1226-15_1226-14del | ||
| ENST00000686479.1:n.1234-15_1234-14del | ||
| ENST00000686762.1:c.863-15_863-14del | ENSP00000509767.1:n.863-15_863-14del | |
| ENST00000687257.1:n.1099-15_1099-14del | ||
| ENST00000687326.1:c.863-15_863-14del | ENSP00000509665.1:n.863-15_863-14del | |
| ENST00000687486.1:c.182+94_182+95del | ||
| ENST00000687505.1:n.981-15_981-14del | ||
| ENST00000687923.1:c.764-15_764-14del | ENSP00000510255.1:n.764-15_764-14del | |
| ENST00000687940.1:n.1240-15_1240-14del | ||
| ENST00000688269.1:n.1471-27_1471-26del | ||
| ENST00000688326.1:c.183-15_183-14del | ||
| ENST00000688444.1:n.1189-15_1189-14del | ||
| ENST00000688543.1:c.764-15_764-14del | ENSP00000509612.1:n.764-15_764-14del | |
| ENST00000688625.1:c.*441-15_*441-14del | ENSP00000509522.1:n.*441-15_*441-14del | |
| ENST00000688803.1:n.1094-15_1094-14del | ||
| ENST00000689097.1:c.*540-15_*540-14del | ENSP00000509756.1:n.*540-15_*540-14del | |
| ENST00000689389.1:c.863-15_863-14del | ENSP00000510213.1:n.863-15_863-14del | |
| ENST00000689418.1:c.*540-15_*540-14del | ENSP00000509467.1:n.*540-15_*540-14del | |
| ENST00000689481.1:c.*540-15_*540-14del | ENSP00000510248.1:n.*540-15_*540-14del | |
| ENST00000689540.1:n.1013-15_1013-14del | ||
| ENST00000689876.1:c.863-15_863-14del | ENSP00000508535.1:n.863-15_863-14del | |
| ENST00000689914.1:c.863-15_863-14del | ENSP00000509847.1:n.863-15_863-14del | |
| ENST00000690397.1:c.764-27_764-26del | ENSP00000508730.1:n.764-27_764-26del | |
| ENST00000690460.1:c.863-27_863-26del | ENSP00000509106.1:n.863-27_863-26del | |
| ENST00000690625.1:n.1166-15_1166-14del | ||
| ENST00000691268.1:c.290-15_290-14del | ||
| ENST00000691396.1:c.*656-15_*656-14del | ENSP00000510712.1:n.*656-15_*656-14del | |
| ENST00000691724.1:c.863-15_863-14del | ENSP00000509255.1:n.863-15_863-14del | |
| ENST00000691779.1:c.*441-15_*441-14del | ENSP00000508592.1:n.*441-15_*441-14del | |
| ENST00000691899.1:c.863-15_863-14del | ENSP00000508763.1:n.863-15_863-14del | |
| ENST00000692069.1:n.1071_1072del | ||
| ENST00000692093.1:c.764-15_764-14del | ENSP00000509669.1:n.764-15_764-14del | |
| ENST00000692311.1:n.1329_1330del | ||
| ENST00000692558.1:n.1228-15_1228-14del | ||
| ENST00000692773.1:c.*600-15_*600-14del | ENSP00000509055.1:n.*600-15_*600-14del | |
| ENST00000692830.1:c.*608-15_*608-14del | ENSP00000509461.1:n.*608-15_*608-14del | |
| ENST00000693069.1:c.764-15_764-14del | ENSP00000510072.1:n.764-15_764-14del | |
| ENST00000693312.1:c.638-15_638-14del | ENSP00000508686.1:n.638-15_638-14del | |
| ENST00000693664.1:c.863-15_863-14del | ENSP00000509614.1:n.863-15_863-14del | |
| ENST00000693705.1:c.*540-15_*540-14del | ENSP00000510697.1:n.*540-15_*540-14del | |
| ENST00000251849.9:c.863-15_863-14del MANE Select | ENSP00000251849.4:n.863-15_863-14del | |
| ENST00000442415.7:c.923-15_923-14del | ENSP00000401888.2:n.923-15_923-14del | |
| ENST00000251849.8:c.863-15_863-14del | ENSP00000251849.4:n.863-15_863-14del | |
| ENST00000423275.5:c.*540-15_*540-14del | ENSP00000401088.1:n.*540-15_*540-14del | |
| ENST00000432427.2:c.500-15_500-14del | ENSP00000398591.2:n.500-15_500-14del | |
| ENST00000442415.6:c.923-15_923-14del | ENSP00000401888.2:n.923-15_923-14del | |
| ENST00000465826.5:n.107-15_107-14del | ||
| ENST00000491290.1:n.477_478del | ||
| NM_002880.3:c.863-15_863-14del , LRG_413t1:c.863-15_863-14del | NP_002871.1:n.863-15_863-14del | |
| XM_005265355.1:c.863-15_863-14del | XP_005265412.1:n.863-15_863-14del | |
| XM_005265357.1:c.764-15_764-14del | XP_005265414.1:n.764-15_764-14del | |
| XM_005265358.3:c.620-15_620-14del | XP_005265415.1:n.620-15_620-14del | |
| XM_005265359.3:c.521-15_521-14del | XP_005265416.1:n.521-15_521-14del | |
| XM_005265360.1:c.863-15_863-14del | XP_005265417.1:n.863-15_863-14del | |
| XM_011533974.1:c.863-15_863-14del | XP_011532276.1:n.863-15_863-14del | |
| XM_011533975.1:c.620-15_620-14del | XP_011532277.1:n.620-15_620-14del | |
| NM_001354689.1:c.923-15_923-14del | NP_001341618.1:n.923-15_923-14del | |
| NM_001354690.1:c.863-15_863-14del | NP_001341619.1:n.863-15_863-14del | |
| NM_001354691.1:c.620-15_620-14del | NP_001341620.1:n.620-15_620-14del | |
| NM_001354692.1:c.620-15_620-14del | NP_001341621.1:n.620-15_620-14del | |
| NM_001354693.1:c.764-15_764-14del | NP_001341622.1:n.764-15_764-14del | |
| NM_001354694.1:c.680-15_680-14del | NP_001341623.1:n.680-15_680-14del | |
| NM_001354695.1:c.521-15_521-14del | NP_001341624.1:n.521-15_521-14del | |
| NR_148940.1:n.1278-15_1278-14del | ||
| NR_148941.1:n.1278-15_1278-14del | ||
| NR_148942.1:n.1278-15_1278-14del | ||
| XM_011533974.3:c.863-15_863-14del | XP_011532276.1:n.863-15_863-14del | |
| XM_017006966.1:c.764-15_764-14del | XP_016862455.1:n.764-15_764-14del | |
| XR_001740227.1:n.1095-15_1095-14del | ||
| NM_001354689.3:c.923-15_923-14del | NP_001341618.1:n.923-15_923-14del | |
| NM_001354690.2:c.863-15_863-14del | NP_001341619.1:n.863-15_863-14del | |
| NM_001354691.2:c.620-15_620-14del | NP_001341620.1:n.620-15_620-14del | |
| NM_001354692.2:c.620-15_620-14del | NP_001341621.1:n.620-15_620-14del | |
| NM_001354693.2:c.764-15_764-14del | NP_001341622.1:n.764-15_764-14del | |
| NM_001354694.2:c.680-15_680-14del | NP_001341623.1:n.680-15_680-14del | |
| NM_001354695.2:c.521-15_521-14del | NP_001341624.1:n.521-15_521-14del | |
| NR_148940.2:n.1194-15_1194-14del | ||
| NR_148941.2:n.1194-15_1194-14del | ||
| NR_148942.2:n.1194-15_1194-14del | ||
| NM_001354690.3:c.863-15_863-14del | NP_001341619.1:n.863-15_863-14del | |
| NM_001354691.3:c.620-15_620-14del | NP_001341620.1:n.620-15_620-14del | |
| NM_001354692.3:c.620-15_620-14del | NP_001341621.1:n.620-15_620-14del | |
| NM_001354693.3:c.764-15_764-14del | NP_001341622.1:n.764-15_764-14del | |
| NM_001354694.3:c.680-15_680-14del | NP_001341623.1:n.680-15_680-14del | |
| NM_001354695.3:c.521-15_521-14del | NP_001341624.1:n.521-15_521-14del | |
| NM_002880.4:c.863-15_863-14del MANE Select | NP_002871.1:n.863-15_863-14del | |
| NR_148940.3:n.1194-15_1194-14del | ||
| NR_148941.3:n.1194-15_1194-14del | ||
| NR_148942.3:n.1194-15_1194-14del |