Canonical Allele Identifier: CA2582342837
Gene: RAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2626567
ClinVar RCV Id: RCV003384107 RCV003539489
gnomAD v4: 3-12600200-TGCTGGCACGGGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12600202_12600213del , CM000665.2:g.12600202_12600213del GRCh38
NC_000003.11:g.12641701_12641712del , CM000665.1:g.12641701_12641712del GRCh37
NC_000003.10:g.12616701_12616712del NCBI36
NG_007467.1:g.68968_68979del , LRG_413:g.68968_68979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*595_*606del ENSP00000401088.1:n.*595_*606del
ENST00000432427.3:c.250_261del
ENST00000465826.6:n.521_532del
ENST00000491290.2:n.1307_1318del
ENST00000684903.1:c.*607_*618del ENSP00000508612.1:n.*607_*618del
ENST00000685348.1:c.*607_*618del ENSP00000510285.1:n.*607_*618del
ENST00000685437.1:c.831_842del ENSP00000508794.1:p.Pro278_Ala281del
ENST00000685653.1:c.930_941del ENSP00000509968.1:p.Pro311_Ala314del
ENST00000685738.1:c.930_941del ENSP00000510156.1:p.Pro311_Ala314del
ENST00000686409.1:n.1638_1649del
ENST00000686455.1:n.1293_1304del
ENST00000686479.1:n.1301_1312del
ENST00000686762.1:c.930_941del ENSP00000509767.1:p.Pro311_Ala314del
ENST00000687257.1:n.1166_1177del
ENST00000687326.1:c.930_941del ENSP00000509665.1:p.Pro311_Ala314del
ENST00000687486.1:c.182+176_182+187del
ENST00000687505.1:n.1048_1059del
ENST00000687923.1:c.831_842del ENSP00000510255.1:p.Pro278_Ala281del
ENST00000687940.1:n.1307_1318del
ENST00000688269.1:n.1526_1537del
ENST00000688326.1:c.250_261del
ENST00000688444.1:n.1256_1267del
ENST00000688543.1:c.831_842del ENSP00000509612.1:p.Pro278_Ala281del
ENST00000688625.1:c.*508_*519del ENSP00000509522.1:n.*508_*519del
ENST00000688803.1:n.1161_1172del
ENST00000689097.1:c.*607_*618del ENSP00000509756.1:n.*607_*618del
ENST00000689389.1:c.930_941del ENSP00000510213.1:p.Pro311_Ala314del
ENST00000689418.1:c.*607_*618del ENSP00000509467.1:n.*607_*618del
ENST00000689481.1:c.*607_*618del ENSP00000510248.1:n.*607_*618del
ENST00000689540.1:n.1080_1091del
ENST00000689876.1:c.930_941del ENSP00000508535.1:p.Pro311_Ala314del
ENST00000689914.1:c.930_941del ENSP00000509847.1:p.Pro311_Ala314del
ENST00000690397.1:c.819_830del ENSP00000508730.1:p.Pro274_Ala277del
ENST00000690460.1:c.918_929del ENSP00000509106.1:p.Pro307_Ala310del
ENST00000690625.1:n.1233_1244del
ENST00000691268.1:c.357_368del
ENST00000691396.1:c.*723_*734del ENSP00000510712.1:n.*723_*734del
ENST00000691724.1:c.930_941del ENSP00000509255.1:p.Pro311_Ala314del
ENST00000691779.1:c.*508_*519del ENSP00000508592.1:n.*508_*519del
ENST00000691899.1:c.930_941del ENSP00000508763.1:p.Pro311_Ala314del
ENST00000692069.1:n.1153_1164del
ENST00000692093.1:c.831_842del ENSP00000509669.1:p.Pro278_Ala281del
ENST00000692311.1:n.1411_1422del
ENST00000692558.1:n.1295_1306del
ENST00000692773.1:c.*667_*678del ENSP00000509055.1:n.*667_*678del
ENST00000692830.1:c.*675_*686del ENSP00000509461.1:n.*675_*686del
ENST00000693069.1:c.831_842del ENSP00000510072.1:p.Pro278_Ala281del
ENST00000693312.1:c.705_716del ENSP00000508686.1:p.Pro236_Ala239del
ENST00000693664.1:c.930_941del ENSP00000509614.1:p.Pro311_Ala314del
ENST00000693705.1:c.*607_*618del ENSP00000510697.1:n.*607_*618del
ENST00000251849.9:c.930_941del MANE Select ENSP00000251849.4:p.Pro311_Ala314del
ENST00000442415.7:c.990_1001del ENSP00000401888.2:p.Pro331_Ala334del
ENST00000251849.8:c.930_941del ENSP00000251849.4:p.Pro311_Ala314del
ENST00000423275.5:c.*607_*618del ENSP00000401088.1:n.*607_*618del
ENST00000432427.2:c.567_578del ENSP00000398591.2:p.Pro190_Ala193del
ENST00000442415.6:c.990_1001del ENSP00000401888.2:p.Pro331_Ala334del
ENST00000465826.5:n.174_185del
ENST00000491290.1:n.559_570del
NM_002880.3:c.930_941del , LRG_413t1:c.930_941del NP_002871.1:p.Pro311_Ala314del
XM_005265355.1:c.930_941del XP_005265412.1:p.Pro311_Ala314del
XM_005265357.1:c.831_842del XP_005265414.1:p.Pro278_Ala281del
XM_005265358.3:c.687_698del XP_005265415.1:p.Pro230_Ala233del
XM_005265359.3:c.588_599del XP_005265416.1:p.Pro197_Ala200del
XM_005265360.1:c.930_941del XP_005265417.1:p.Pro311_Ala314del
XM_011533974.1:c.930_941del XP_011532276.1:p.Pro311_Ala314del
XM_011533975.1:c.687_698del XP_011532277.1:p.Pro230_Ala233del
NM_001354689.1:c.990_1001del NP_001341618.1:p.Pro331_Ala334del
NM_001354690.1:c.930_941del NP_001341619.1:p.Pro311_Ala314del
NM_001354691.1:c.687_698del NP_001341620.1:p.Pro230_Ala233del
NM_001354692.1:c.687_698del NP_001341621.1:p.Pro230_Ala233del
NM_001354693.1:c.831_842del NP_001341622.1:p.Pro278_Ala281del
NM_001354694.1:c.747_758del NP_001341623.1:p.Pro250_Ala253del
NM_001354695.1:c.588_599del NP_001341624.1:p.Pro197_Ala200del
NR_148940.1:n.1345_1356del
NR_148941.1:n.1345_1356del
NR_148942.1:n.1345_1356del
XM_011533974.3:c.930_941del XP_011532276.1:p.Pro311_Ala314del
XM_017006966.1:c.831_842del XP_016862455.1:p.Pro278_Ala281del
XR_001740227.1:n.1162_1173del
NM_001354689.3:c.990_1001del NP_001341618.1:p.Pro331_Ala334del
NM_001354690.2:c.930_941del NP_001341619.1:p.Pro311_Ala314del
NM_001354691.2:c.687_698del NP_001341620.1:p.Pro230_Ala233del
NM_001354692.2:c.687_698del NP_001341621.1:p.Pro230_Ala233del
NM_001354693.2:c.831_842del NP_001341622.1:p.Pro278_Ala281del
NM_001354694.2:c.747_758del NP_001341623.1:p.Pro250_Ala253del
NM_001354695.2:c.588_599del NP_001341624.1:p.Pro197_Ala200del
NR_148940.2:n.1261_1272del
NR_148941.2:n.1261_1272del
NR_148942.2:n.1261_1272del
NM_001354690.3:c.930_941del NP_001341619.1:p.Pro311_Ala314del
NM_001354691.3:c.687_698del NP_001341620.1:p.Pro230_Ala233del
NM_001354692.3:c.687_698del NP_001341621.1:p.Pro230_Ala233del
NM_001354693.3:c.831_842del NP_001341622.1:p.Pro278_Ala281del
NM_001354694.3:c.747_758del NP_001341623.1:p.Pro250_Ala253del
NM_001354695.3:c.588_599del NP_001341624.1:p.Pro197_Ala200del
NM_002880.4:c.930_941del MANE Select NP_002871.1:p.Pro311_Ala314del
NR_148940.3:n.1261_1272del
NR_148941.3:n.1261_1272del
NR_148942.3:n.1261_1272del
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