Canonical Allele Identifier: CA2580068460
Gene: RAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2441871
ClinVar RCV Id: RCV003148186

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12600192_12600193delinsAG , CM000665.2:g.12600192_12600193delinsAG GRCh38
NC_000003.11:g.12641691_12641692delinsAG , CM000665.1:g.12641691_12641692delinsAG GRCh37
NC_000003.10:g.12616691_12616692delinsAG NCBI36
NG_007467.1:g.68987_68988delinsCT , LRG_413:g.68987_68988delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*614_*615delinsCT ENSP00000401088.1:n.*614_*615delinsCT
ENST00000432427.3:c.269_270delinsCT
ENST00000465826.6:n.540_541delinsCT
ENST00000491290.2:n.1326_1327delinsCT
ENST00000684903.1:c.*626_*627delinsCT ENSP00000508612.1:n.*626_*627delinsCT
ENST00000685348.1:c.*626_*627delinsCT ENSP00000510285.1:n.*626_*627delinsCT
ENST00000685437.1:c.850_851delinsCT ENSP00000508794.1:p.Glu284Leu
ENST00000685653.1:c.949_950delinsCT ENSP00000509968.1:p.Glu317Leu
ENST00000685738.1:c.949_950delinsCT ENSP00000510156.1:p.Glu317Leu
ENST00000686409.1:n.1657_1658delinsCT
ENST00000686455.1:n.1312_1313delinsCT
ENST00000686479.1:n.1320_1321delinsCT
ENST00000686762.1:c.949_950delinsCT ENSP00000509767.1:p.Glu317Leu
ENST00000687257.1:n.1185_1186delinsCT
ENST00000687326.1:c.949_950delinsCT ENSP00000509665.1:p.Glu317Leu
ENST00000687486.1:c.182+195_182+196delinsCT
ENST00000687505.1:n.1067_1068delinsCT
ENST00000687923.1:c.850_851delinsCT ENSP00000510255.1:p.Glu284Leu
ENST00000687940.1:n.1326_1327delinsCT
ENST00000688269.1:n.1545_1546delinsCT
ENST00000688326.1:c.269_270delinsCT
ENST00000688444.1:n.1275_1276delinsCT
ENST00000688543.1:c.850_851delinsCT ENSP00000509612.1:p.Glu284Leu
ENST00000688625.1:c.*527_*528delinsCT ENSP00000509522.1:n.*527_*528delinsCT
ENST00000688803.1:n.1180_1181delinsCT
ENST00000689097.1:c.*626_*627delinsCT ENSP00000509756.1:n.*626_*627delinsCT
ENST00000689389.1:c.949_950delinsCT ENSP00000510213.1:p.Glu317Leu
ENST00000689418.1:c.*626_*627delinsCT ENSP00000509467.1:n.*626_*627delinsCT
ENST00000689481.1:c.*626_*627delinsCT ENSP00000510248.1:n.*626_*627delinsCT
ENST00000689540.1:n.1099_1100delinsCT
ENST00000689876.1:c.949_950delinsCT ENSP00000508535.1:p.Glu317Leu
ENST00000689914.1:c.949_950delinsCT ENSP00000509847.1:p.Glu317Leu
ENST00000690397.1:c.838_839delinsCT ENSP00000508730.1:p.Glu280Leu
ENST00000690460.1:c.937_938delinsCT ENSP00000509106.1:p.Glu313Leu
ENST00000690625.1:n.1252_1253delinsCT
ENST00000691268.1:c.376_377delinsCT
ENST00000691396.1:c.*742_*743delinsCT ENSP00000510712.1:n.*742_*743delinsCT
ENST00000691724.1:c.949_950delinsCT ENSP00000509255.1:p.Glu317Leu
ENST00000691779.1:c.*527_*528delinsCT ENSP00000508592.1:n.*527_*528delinsCT
ENST00000691899.1:c.949_950delinsCT ENSP00000508763.1:p.Glu317Leu
ENST00000692069.1:n.1172_1173delinsCT
ENST00000692093.1:c.850_851delinsCT ENSP00000509669.1:p.Glu284Leu
ENST00000692311.1:n.1430_1431delinsCT
ENST00000692558.1:n.1314_1315delinsCT
ENST00000692773.1:c.*686_*687delinsCT ENSP00000509055.1:n.*686_*687delinsCT
ENST00000692830.1:c.*694_*695delinsCT ENSP00000509461.1:n.*694_*695delinsCT
ENST00000693069.1:c.850_851delinsCT ENSP00000510072.1:p.Glu284Leu
ENST00000693312.1:c.724_725delinsCT ENSP00000508686.1:p.Glu242Leu
ENST00000693664.1:c.949_950delinsCT ENSP00000509614.1:p.Glu317Leu
ENST00000693705.1:c.*626_*627delinsCT ENSP00000510697.1:n.*626_*627delinsCT
ENST00000251849.9:c.949_950delinsCT MANE Select ENSP00000251849.4:p.Glu317Leu
ENST00000442415.7:c.1009_1010delinsCT ENSP00000401888.2:p.Glu337Leu
ENST00000251849.8:c.949_950delinsCT ENSP00000251849.4:p.Glu317Leu
ENST00000423275.5:c.*626_*627delinsCT ENSP00000401088.1:n.*626_*627delinsCT
ENST00000432427.2:c.586_587delinsCT ENSP00000398591.2:p.Glu196Leu
ENST00000442415.6:c.1009_1010delinsCT ENSP00000401888.2:p.Glu337Leu
ENST00000465826.5:n.193_194delinsCT
NM_002880.3:c.949_950delinsCT , LRG_413t1:c.949_950delinsCT NP_002871.1:p.Glu317Leu
XM_005265355.1:c.949_950delinsCT XP_005265412.1:p.Glu317Leu
XM_005265357.1:c.850_851delinsCT XP_005265414.1:p.Glu284Leu
XM_005265358.3:c.706_707delinsCT XP_005265415.1:p.Glu236Leu
XM_005265359.3:c.607_608delinsCT XP_005265416.1:p.Glu203Leu
XM_005265360.1:c.949_950delinsCT XP_005265417.1:p.Glu317Leu
XM_011533974.1:c.949_950delinsCT XP_011532276.1:p.Glu317Leu
XM_011533975.1:c.706_707delinsCT XP_011532277.1:p.Glu236Leu
NM_001354689.1:c.1009_1010delinsCT NP_001341618.1:p.Glu337Leu
NM_001354690.1:c.949_950delinsCT NP_001341619.1:p.Glu317Leu
NM_001354691.1:c.706_707delinsCT NP_001341620.1:p.Glu236Leu
NM_001354692.1:c.706_707delinsCT NP_001341621.1:p.Glu236Leu
NM_001354693.1:c.850_851delinsCT NP_001341622.1:p.Glu284Leu
NM_001354694.1:c.766_767delinsCT NP_001341623.1:p.Glu256Leu
NM_001354695.1:c.607_608delinsCT NP_001341624.1:p.Glu203Leu
NR_148940.1:n.1364_1365delinsCT
NR_148941.1:n.1364_1365delinsCT
NR_148942.1:n.1364_1365delinsCT
XM_011533974.3:c.949_950delinsCT XP_011532276.1:p.Glu317Leu
XM_017006966.1:c.850_851delinsCT XP_016862455.1:p.Glu284Leu
XR_001740227.1:n.1181_1182delinsCT
NM_001354689.3:c.1009_1010delinsCT NP_001341618.1:p.Glu337Leu
NM_001354690.2:c.949_950delinsCT NP_001341619.1:p.Glu317Leu
NM_001354691.2:c.706_707delinsCT NP_001341620.1:p.Glu236Leu
NM_001354692.2:c.706_707delinsCT NP_001341621.1:p.Glu236Leu
NM_001354693.2:c.850_851delinsCT NP_001341622.1:p.Glu284Leu
NM_001354694.2:c.766_767delinsCT NP_001341623.1:p.Glu256Leu
NM_001354695.2:c.607_608delinsCT NP_001341624.1:p.Glu203Leu
NR_148940.2:n.1280_1281delinsCT
NR_148941.2:n.1280_1281delinsCT
NR_148942.2:n.1280_1281delinsCT
NM_001354690.3:c.949_950delinsCT NP_001341619.1:p.Glu317Leu
NM_001354691.3:c.706_707delinsCT NP_001341620.1:p.Glu236Leu
NM_001354692.3:c.706_707delinsCT NP_001341621.1:p.Glu236Leu
NM_001354693.3:c.850_851delinsCT NP_001341622.1:p.Glu284Leu
NM_001354694.3:c.766_767delinsCT NP_001341623.1:p.Glu256Leu
NM_001354695.3:c.607_608delinsCT NP_001341624.1:p.Glu203Leu
NM_002880.4:c.949_950delinsCT MANE Select NP_002871.1:p.Glu317Leu
NR_148940.3:n.1280_1281delinsCT
NR_148941.3:n.1280_1281delinsCT
NR_148942.3:n.1280_1281delinsCT