Linked Data
ClinVar Variation Id:
1604692
ClinVar RCV Id:
RCV002149602
dbSNP Id:
rs2058496555
gnomAD v4:
3-12590976-T-TGGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590987_12590991dup , CM000665.2:g.12590987_12590991dup | GRCh38 |
| NC_000003.11:g.12632486_12632490dup , CM000665.1:g.12632486_12632490dup | GRCh37 |
| NC_000003.10:g.12607486_12607490dup | NCBI36 |
| NG_007467.1:g.78199_78203dup , LRG_413:g.78199_78203dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*859-7_*859-3dup | ENSP00000401088.1:n.*859-7_*859-3dup | |
| ENST00000432427.3:c.511-7_511-3dup | ||
| ENST00000465826.6:n.785-7_785-3dup | ||
| ENST00000475353.2:n.1116-7_1116-3dup | ||
| ENST00000494557.2:n.1005-7_1005-3dup | ||
| ENST00000684903.1:c.*871-7_*871-3dup | ENSP00000508612.1:n.*871-7_*871-3dup | |
| ENST00000685348.1:c.*871-7_*871-3dup | ENSP00000510285.1:n.*871-7_*871-3dup | |
| ENST00000685437.1:c.1095-7_1095-3dup | ENSP00000508794.1:n.1095-7_1095-3dup | |
| ENST00000685653.1:c.1194-7_1194-3dup | ENSP00000509968.1:n.1194-7_1194-3dup | |
| ENST00000685738.1:c.*158-7_*158-3dup | ENSP00000510156.1:n.*158-7_*158-3dup | |
| ENST00000686409.1:n.2245-7_2245-3dup | ||
| ENST00000686455.1:n.1557-7_1557-3dup | ||
| ENST00000686762.1:c.1194-7_1194-3dup | ENSP00000509767.1:n.1194-7_1194-3dup | |
| ENST00000687257.1:n.1430-7_1430-3dup | ||
| ENST00000687326.1:c.*128-7_*128-3dup | ENSP00000509665.1:n.*128-7_*128-3dup | |
| ENST00000687505.1:n.1312-7_1312-3dup | ||
| ENST00000687923.1:c.1083-7_1083-3dup | ENSP00000510255.1:n.1083-7_1083-3dup | |
| ENST00000687940.1:n.1571-7_1571-3dup | ||
| ENST00000688269.1:n.1790-7_1790-3dup | ||
| ENST00000688326.1:c.627-7_627-3dup | ||
| ENST00000688444.1:n.1520-7_1520-3dup | ||
| ENST00000688543.1:c.1095-7_1095-3dup | ENSP00000509612.1:n.1095-7_1095-3dup | |
| ENST00000688625.1:c.*772-7_*772-3dup | ENSP00000509522.1:n.*772-7_*772-3dup | |
| ENST00000688803.1:n.1425-7_1425-3dup | ||
| ENST00000688914.1:n.180-7_180-3dup | ||
| ENST00000689097.1:c.*871-7_*871-3dup | ENSP00000509756.1:n.*871-7_*871-3dup | |
| ENST00000689389.1:c.1193+727_1193+731dup | ENSP00000510213.1:n.1193+727_1193+731dup | |
| ENST00000689418.1:c.*871-7_*871-3dup | ENSP00000509467.1:n.*871-7_*871-3dup | |
| ENST00000689481.1:c.*871-7_*871-3dup | ENSP00000510248.1:n.*871-7_*871-3dup | |
| ENST00000689540.1:n.1344-7_1344-3dup | ||
| ENST00000689876.1:c.1194-7_1194-3dup | ENSP00000508535.1:n.1194-7_1194-3dup | |
| ENST00000689914.1:c.*128-7_*128-3dup | ENSP00000509847.1:n.*128-7_*128-3dup | |
| ENST00000690397.1:c.1083-7_1083-3dup | ENSP00000508730.1:n.1083-7_1083-3dup | |
| ENST00000690460.1:c.1182-7_1182-3dup | ENSP00000509106.1:n.1182-7_1182-3dup | |
| ENST00000690585.1:c.86-7_86-3dup | ||
| ENST00000690625.1:n.2223_2227dup | ||
| ENST00000691396.1:c.*1046-7_*1046-3dup | ENSP00000510712.1:n.*1046-7_*1046-3dup | |
| ENST00000691724.1:c.*151-7_*151-3dup | ENSP00000509255.1:n.*151-7_*151-3dup | |
| ENST00000691779.1:c.*772-7_*772-3dup | ENSP00000508592.1:n.*772-7_*772-3dup | |
| ENST00000691888.1:c.86-7_86-3dup | ||
| ENST00000691899.1:c.1194-7_1194-3dup | ENSP00000508763.1:n.1194-7_1194-3dup | |
| ENST00000692069.1:n.1760-7_1760-3dup | ||
| ENST00000692093.1:c.1095-7_1095-3dup | ENSP00000509669.1:n.1095-7_1095-3dup | |
| ENST00000692311.1:n.2018-7_2018-3dup | ||
| ENST00000692558.1:n.1559-7_1559-3dup | ||
| ENST00000692773.1:c.*931-7_*931-3dup | ENSP00000509055.1:n.*931-7_*931-3dup | |
| ENST00000692830.1:c.*939-7_*939-3dup | ENSP00000509461.1:n.*939-7_*939-3dup | |
| ENST00000693069.1:c.*128-7_*128-3dup | ENSP00000510072.1:n.*128-7_*128-3dup | |
| ENST00000693312.1:c.969-7_969-3dup | ENSP00000508686.1:n.969-7_969-3dup | |
| ENST00000693664.1:c.1194-7_1194-3dup | ENSP00000509614.1:n.1194-7_1194-3dup | |
| ENST00000693705.1:c.*871-7_*871-3dup | ENSP00000510697.1:n.*871-7_*871-3dup | |
| ENST00000251849.9:c.1194-7_1194-3dup MANE Select | ENSP00000251849.4:n.1194-7_1194-3dup | |
| ENST00000442415.7:c.1254-7_1254-3dup | ENSP00000401888.2:n.1254-7_1254-3dup | |
| ENST00000251849.8:c.1194-7_1194-3dup | ENSP00000251849.4:n.1194-7_1194-3dup | |
| ENST00000423275.5:c.*871-7_*871-3dup | ENSP00000401088.1:n.*871-7_*871-3dup | |
| ENST00000432427.2:c.831-7_831-3dup | ENSP00000398591.2:n.831-7_831-3dup | |
| ENST00000442415.6:c.1254-7_1254-3dup | ENSP00000401888.2:n.1254-7_1254-3dup | |
| ENST00000460610.1:n.151-7_151-3dup | ||
| ENST00000465826.5:n.551-7_551-3dup | ||
| ENST00000475353.1:n.362-7_362-3dup | ||
| ENST00000494557.1:n.210-7_210-3dup | ||
| NM_002880.3:c.1194-7_1194-3dup , LRG_413t1:c.1194-7_1194-3dup | NP_002871.1:n.1194-7_1194-3dup | |
| XM_005265355.1:c.1194-7_1194-3dup | XP_005265412.1:n.1194-7_1194-3dup | |
| XM_005265357.1:c.1095-7_1095-3dup | XP_005265414.1:n.1095-7_1095-3dup | |
| XM_005265358.3:c.951-7_951-3dup | XP_005265415.1:n.951-7_951-3dup | |
| XM_005265359.3:c.852-7_852-3dup | XP_005265416.1:n.852-7_852-3dup | |
| XM_005265360.1:c.1194-7_1194-3dup | XP_005265417.1:n.1194-7_1194-3dup | |
| XM_011533974.1:c.1194-7_1194-3dup | XP_011532276.1:n.1194-7_1194-3dup | |
| XM_011533975.1:c.951-7_951-3dup | XP_011532277.1:n.951-7_951-3dup | |
| NM_001354689.1:c.1254-7_1254-3dup | NP_001341618.1:n.1254-7_1254-3dup | |
| NM_001354690.1:c.1194-7_1194-3dup | NP_001341619.1:n.1194-7_1194-3dup | |
| NM_001354691.1:c.951-7_951-3dup | NP_001341620.1:n.951-7_951-3dup | |
| NM_001354692.1:c.951-7_951-3dup | NP_001341621.1:n.951-7_951-3dup | |
| NM_001354693.1:c.1095-7_1095-3dup | NP_001341622.1:n.1095-7_1095-3dup | |
| NM_001354694.1:c.1011-7_1011-3dup | NP_001341623.1:n.1011-7_1011-3dup | |
| NM_001354695.1:c.852-7_852-3dup | NP_001341624.1:n.852-7_852-3dup | |
| NR_148940.1:n.1722-7_1722-3dup | ||
| NR_148941.1:n.1668-7_1668-3dup | ||
| NR_148942.1:n.1607-7_1607-3dup | ||
| XM_011533974.3:c.1194-7_1194-3dup | XP_011532276.1:n.1194-7_1194-3dup | |
| XM_017006966.1:c.1095-7_1095-3dup | XP_016862455.1:n.1095-7_1095-3dup | |
| XR_001740227.1:n.1485-7_1485-3dup | ||
| NM_001354689.3:c.1254-7_1254-3dup | NP_001341618.1:n.1254-7_1254-3dup | |
| NM_001354690.2:c.1194-7_1194-3dup | NP_001341619.1:n.1194-7_1194-3dup | |
| NM_001354691.2:c.951-7_951-3dup | NP_001341620.1:n.951-7_951-3dup | |
| NM_001354692.2:c.951-7_951-3dup | NP_001341621.1:n.951-7_951-3dup | |
| NM_001354693.2:c.1095-7_1095-3dup | NP_001341622.1:n.1095-7_1095-3dup | |
| NM_001354694.2:c.1011-7_1011-3dup | NP_001341623.1:n.1011-7_1011-3dup | |
| NM_001354695.2:c.852-7_852-3dup | NP_001341624.1:n.852-7_852-3dup | |
| NR_148940.2:n.1638-7_1638-3dup | ||
| NR_148941.2:n.1584-7_1584-3dup | ||
| NR_148942.2:n.1523-7_1523-3dup | ||
| NM_001354690.3:c.1194-7_1194-3dup | NP_001341619.1:n.1194-7_1194-3dup | |
| NM_001354691.3:c.951-7_951-3dup | NP_001341620.1:n.951-7_951-3dup | |
| NM_001354692.3:c.951-7_951-3dup | NP_001341621.1:n.951-7_951-3dup | |
| NM_001354693.3:c.1095-7_1095-3dup | NP_001341622.1:n.1095-7_1095-3dup | |
| NM_001354694.3:c.1011-7_1011-3dup | NP_001341623.1:n.1011-7_1011-3dup | |
| NM_001354695.3:c.852-7_852-3dup | NP_001341624.1:n.852-7_852-3dup | |
| NM_002880.4:c.1194-7_1194-3dup MANE Select | NP_002871.1:n.1194-7_1194-3dup | |
| NR_148940.3:n.1638-7_1638-3dup | ||
| NR_148941.3:n.1584-7_1584-3dup | ||
| NR_148942.3:n.1523-7_1523-3dup |