UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2125316006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584553_12584556del , CM000665.2:g.12584553_12584556del | GRCh38 |
| NC_000003.11:g.12626052_12626055del , CM000665.1:g.12626052_12626055del | GRCh37 |
| NC_000003.10:g.12601052_12601055del | NCBI36 |
| NG_007467.1:g.84627_84630del , LRG_413:g.84627_84630del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1573_*1576del (RAF1) | ENSP00000401088.1:n.*1573_*1576del | |
| ENST00000432427.3:c.1225_1228del (RAF1) | ||
| ENST00000460610.2:n.6220_6223del (RAF1) | ||
| ENST00000471449.2:n.718_721del (RAF1) | ||
| ENST00000475353.2:n.4188_4191del (RAF1) | ||
| ENST00000684903.1:c.*1585_*1588del (RAF1) | ENSP00000508612.1:n.*1585_*1588del | |
| ENST00000685348.1:c.*1619_*1622del (RAF1) | ENSP00000510285.1:n.*1619_*1622del | |
| ENST00000685437.1:c.1809_1812del (RAF1) | ENSP00000508794.1:p.Cys604ArgfsTer2 | |
| ENST00000685653.1:c.1908_1911del (RAF1) | ENSP00000509968.1:p.Cys637ArgfsTer2 | |
| ENST00000685697.1:n.2643_2646del (RAF1) | ||
| ENST00000685738.1:c.*872_*875del (RAF1) | ENSP00000510156.1:n.*872_*875del | |
| ENST00000686409.1:n.5317_5320del (RAF1) | ||
| ENST00000686455.1:n.4629_4632del (RAF1) | ||
| ENST00000686762.1:c.*467_*470del (RAF1) | ENSP00000509767.1:n.*467_*470del | |
| ENST00000687257.1:n.4362_4365del (RAF1) | ||
| ENST00000687326.1:c.*3200_*3203del (RAF1) | ENSP00000509665.1:n.*3200_*3203del | |
| ENST00000687505.1:n.2026_2029del (RAF1) | ||
| ENST00000687923.1:c.1797_1800del (RAF1) | ENSP00000510255.1:p.Cys600ArgfsTer2 | |
| ENST00000688269.1:n.2504_2507del (RAF1) | ||
| ENST00000688444.1:n.4025_4028del (RAF1) | ||
| ENST00000688543.1:c.1809_1812del (RAF1) | ENSP00000509612.1:p.Cys604ArgfsTer2 | |
| ENST00000688625.1:c.*3277_*3280del (RAF1) | ENSP00000509522.1:n.*3277_*3280del | |
| ENST00000688803.1:n.3336_3339del (RAF1) | ||
| ENST00000689097.1:c.*1585_*1588del (RAF1) | ENSP00000509756.1:n.*1585_*1588del | |
| ENST00000689389.1:c.1731_1734del (RAF1) | ENSP00000510213.1:p.Cys578ArgfsTer2 | |
| ENST00000689418.1:c.*3803_*3806del (RAF1) | ENSP00000509467.1:n.*3803_*3806del | |
| ENST00000689540.1:n.4276_4279del (RAF1) | ||
| ENST00000689876.1:c.*457_*460del (RAF1) | ENSP00000508535.1:n.*457_*460del | |
| ENST00000689914.1:c.*842_*845del (RAF1) | ENSP00000509847.1:n.*842_*845del | |
| ENST00000690397.1:c.1797_1800del (RAF1) | ENSP00000508730.1:p.Cys600ArgfsTer2 | |
| ENST00000690460.1:c.1896_1899del (RAF1) | ENSP00000509106.1:p.Cys633ArgfsTer2 | |
| ENST00000690585.1:c.634_637del (RAF1) | ||
| ENST00000690625.1:n.2944_2947del (RAF1) | ||
| ENST00000691396.1:c.*1780_*1783del (RAF1) | ENSP00000510712.1:n.*1780_*1783del | |
| ENST00000691643.1:n.2961_2964del (RAF1) | ||
| ENST00000691724.1:c.*865_*868del (RAF1) | ENSP00000509255.1:n.*865_*868del | |
| ENST00000691779.1:c.*1486_*1489del (RAF1) | ENSP00000508592.1:n.*1486_*1489del | |
| ENST00000691888.1:c.782_785del (RAF1) | ||
| ENST00000691899.1:c.1908_1911del (RAF1) | ENSP00000508763.1:p.Cys637ArgfsTer2 | |
| ENST00000692069.1:n.4832_4835del (RAF1) | ||
| ENST00000692093.1:c.1809_1812del (RAF1) | ENSP00000509669.1:p.Cys604ArgfsTer2 | |
| ENST00000692311.1:n.2732_2735del (RAF1) | ||
| ENST00000692558.1:n.4491_4494del (RAF1) | ||
| ENST00000692773.1:c.*1645_*1648del (RAF1) | ENSP00000509055.1:n.*1645_*1648del | |
| ENST00000692830.1:c.*1653_*1656del (RAF1) | ENSP00000509461.1:n.*1653_*1656del | |
| ENST00000693312.1:c.1683_1686del (RAF1) | ENSP00000508686.1:p.Cys562ArgfsTer2 | |
| ENST00000693664.1:c.*359_*362del (RAF1) | ENSP00000509614.1:n.*359_*362del | |
| ENST00000693705.1:c.*1287_*1290del (RAF1) | ENSP00000510697.1:n.*1287_*1290del | |
| ENST00000251849.9:c.1908_1911del (RAF1) MANE Select | ENSP00000251849.4:p.Cys637ArgfsTer2 | |
| ENST00000442415.7:c.1968_1971del (RAF1) | ENSP00000401888.2:p.Cys657ArgfsTer2 | |
| ENST00000676541.1:c.*2300_*2303del (MKRN2) | ENSP00000503730.1:n.*2300_*2303del | |
| ENST00000677142.1:c.*2300_*2303del (MKRN2) | ENSP00000504455.1:n.*2300_*2303del | |
| ENST00000677816.1:c.*855_*858del (MKRN2) | ENSP00000502893.1:n.*855_*858del | |
| ENST00000677941.1:n.2363_2366del (MKRN2) | ||
| ENST00000251849.8:c.1908_1911del (RAF1) | ENSP00000251849.4:p.Cys637ArgfsTer2 | |
| ENST00000423275.5:c.*1585_*1588del (RAF1) | ENSP00000401088.1:n.*1585_*1588del | |
| ENST00000432427.2:c.1545_1548del (RAF1) | ENSP00000398591.2:p.Cys516ArgfsTer2 | |
| ENST00000442415.6:c.1968_1971del (RAF1) | ENSP00000401888.2:p.Cys657ArgfsTer2 | |
| ENST00000471449.1:n.597_600del (RAF1) | ||
| NM_002880.3:c.1908_1911del , LRG_413t1:c.1908_1911del (RAF1) | NP_002871.1:p.Cys637ArgfsTer2 | |
| XM_005265355.1:c.1908_1911del (RAF1) | XP_005265412.1:p.Cys637ArgfsTer2 | |
| XM_005265357.1:c.1809_1812del (RAF1) | XP_005265414.1:p.Cys604ArgfsTer2 | |
| XM_005265358.3:c.1665_1668del (RAF1) | XP_005265415.1:p.Cys556ArgfsTer2 | |
| XM_005265359.3:c.1566_1569del (RAF1) | XP_005265416.1:p.Cys523ArgfsTer2 | |
| XM_011533974.1:c.1908_1911del (RAF1) | XP_011532276.1:p.Cys637ArgfsTer2 | |
| XM_011533975.1:c.1665_1668del (RAF1) | XP_011532277.1:p.Cys556ArgfsTer2 | |
| NM_001354689.1:c.1968_1971del (RAF1) | NP_001341618.1:p.Cys657ArgfsTer2 | |
| NM_001354690.1:c.1908_1911del (RAF1) | NP_001341619.1:p.Cys637ArgfsTer2 | |
| NM_001354691.1:c.1665_1668del (RAF1) | NP_001341620.1:p.Cys556ArgfsTer2 | |
| NM_001354692.1:c.1665_1668del (RAF1) | NP_001341621.1:p.Cys556ArgfsTer2 | |
| NM_001354693.1:c.1809_1812del (RAF1) | NP_001341622.1:p.Cys604ArgfsTer2 | |
| NM_001354694.1:c.1725_1728del (RAF1) | NP_001341623.1:p.Cys576ArgfsTer2 | |
| NM_001354695.1:c.1566_1569del (RAF1) | NP_001341624.1:p.Cys523ArgfsTer2 | |
| NR_148940.1:n.2436_2439del (RAF1) | ||
| NR_148941.1:n.2382_2385del (RAF1) | ||
| NR_148942.1:n.2321_2324del (RAF1) | ||
| XM_011533974.3:c.1908_1911del (RAF1) | XP_011532276.1:p.Cys637ArgfsTer2 | |
| XM_017006966.1:c.1809_1812del (RAF1) | XP_016862455.1:p.Cys604ArgfsTer2 | |
| NM_001354689.3:c.1968_1971del (RAF1) | NP_001341618.1:p.Cys657ArgfsTer2 | |
| NM_001354690.2:c.1908_1911del (RAF1) | NP_001341619.1:p.Cys637ArgfsTer2 | |
| NM_001354691.2:c.1665_1668del (RAF1) | NP_001341620.1:p.Cys556ArgfsTer2 | |
| NM_001354692.2:c.1665_1668del (RAF1) | NP_001341621.1:p.Cys556ArgfsTer2 | |
| NM_001354693.2:c.1809_1812del (RAF1) | NP_001341622.1:p.Cys604ArgfsTer2 | |
| NM_001354694.2:c.1725_1728del (RAF1) | NP_001341623.1:p.Cys576ArgfsTer2 | |
| NM_001354695.2:c.1566_1569del (RAF1) | NP_001341624.1:p.Cys523ArgfsTer2 | |
| NR_148940.2:n.2352_2355del (RAF1) | ||
| NR_148941.2:n.2298_2301del (RAF1) | ||
| NR_148942.2:n.2237_2240del (RAF1) | ||
| NM_001354690.3:c.1908_1911del (RAF1) | NP_001341619.1:p.Cys637ArgfsTer2 | |
| NM_001354691.3:c.1665_1668del (RAF1) | NP_001341620.1:p.Cys556ArgfsTer2 | |
| NM_001354692.3:c.1665_1668del (RAF1) | NP_001341621.1:p.Cys556ArgfsTer2 | |
| NM_001354693.3:c.1809_1812del (RAF1) | NP_001341622.1:p.Cys604ArgfsTer2 | |
| NM_001354694.3:c.1725_1728del (RAF1) | NP_001341623.1:p.Cys576ArgfsTer2 | |
| NM_001354695.3:c.1566_1569del (RAF1) | NP_001341624.1:p.Cys523ArgfsTer2 | |
| NM_002880.4:c.1908_1911del (RAF1) MANE Select | NP_002871.1:p.Cys637ArgfsTer2 | |
| NR_148940.3:n.2352_2355del (RAF1) | ||
| NR_148941.3:n.2298_2301del (RAF1) | ||
| NR_148942.3:n.2237_2240del (RAF1) |