OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
gnomAD v4:
3-12585703-GGTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585707_12585709del , CM000665.2:g.12585707_12585709del | GRCh38 |
| NC_000003.11:g.12627206_12627208del , CM000665.1:g.12627206_12627208del | GRCh37 |
| NC_000003.10:g.12602206_12602208del | NCBI36 |
| NG_007467.1:g.83474_83476del , LRG_413:g.83474_83476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1176_*1178del (RAF1) | ENSP00000401088.1:n.*1176_*1178del | |
| ENST00000432427.3:c.828_830del (RAF1) | ||
| ENST00000460610.2:n.5256_5258del (RAF1) | ||
| ENST00000471449.2:n.321_323del (RAF1) | ||
| ENST00000475353.2:n.3224_3226del (RAF1) | ||
| ENST00000684903.1:c.*1188_*1190del (RAF1) | ENSP00000508612.1:n.*1188_*1190del | |
| ENST00000685348.1:c.*1095-300_*1095-298del (RAF1) | ENSP00000510285.1:n.*1095-300_*1095-298del | |
| ENST00000685437.1:c.1412_1414del (RAF1) | ENSP00000508794.1:p.Gln471del | |
| ENST00000685653.1:c.1511_1513del (RAF1) | ENSP00000509968.1:p.Gln504del | |
| ENST00000685697.1:n.2246_2248del (RAF1) | ||
| ENST00000685738.1:c.*475_*477del (RAF1) | ENSP00000510156.1:n.*475_*477del | |
| ENST00000686409.1:n.4353_4355del (RAF1) | ||
| ENST00000686455.1:n.3665_3667del (RAF1) | ||
| ENST00000686762.1:c.*70_*72del (RAF1) | ENSP00000509767.1:n.*70_*72del | |
| ENST00000687257.1:n.3538_3540del (RAF1) | ||
| ENST00000687326.1:c.*2236_*2238del (RAF1) | ENSP00000509665.1:n.*2236_*2238del | |
| ENST00000687505.1:n.1629_1631del (RAF1) | ||
| ENST00000687923.1:c.1400_1402del (RAF1) | ENSP00000510255.1:p.Gln467del | |
| ENST00000688269.1:n.2107_2109del (RAF1) | ||
| ENST00000688444.1:n.3628_3630del (RAF1) | ||
| ENST00000688543.1:c.1412_1414del (RAF1) | ENSP00000509612.1:p.Gln471del | |
| ENST00000688625.1:c.*2880_*2882del (RAF1) | ENSP00000509522.1:n.*2880_*2882del | |
| ENST00000688803.1:n.2965-453_2965-451del (RAF1) | ||
| ENST00000688914.1:n.497_499del (RAF1) | ||
| ENST00000689097.1:c.*1188_*1190del (RAF1) | ENSP00000509756.1:n.*1188_*1190del | |
| ENST00000689389.1:c.1334_1336del (RAF1) | ENSP00000510213.1:p.Gln445del | |
| ENST00000689418.1:c.*2979_*2981del (RAF1) | ENSP00000509467.1:n.*2979_*2981del | |
| ENST00000689540.1:n.3452_3454del (RAF1) | ||
| ENST00000689876.1:c.1418-300_1418-298del (RAF1) | ENSP00000508535.1:n.1418-300_1418-298del | |
| ENST00000689914.1:c.*445_*447del (RAF1) | ENSP00000509847.1:n.*445_*447del | |
| ENST00000690397.1:c.1400_1402del (RAF1) | ENSP00000508730.1:p.Gln467del | |
| ENST00000690460.1:c.1499_1501del (RAF1) | ENSP00000509106.1:p.Gln500del | |
| ENST00000690585.1:c.263-453_263-451del (RAF1) | ||
| ENST00000690625.1:n.2547_2549del (RAF1) | ||
| ENST00000691396.1:c.*1383_*1385del (RAF1) | ENSP00000510712.1:n.*1383_*1385del | |
| ENST00000691643.1:n.2137_2139del (RAF1) | ||
| ENST00000691724.1:c.*468_*470del (RAF1) | ENSP00000509255.1:n.*468_*470del | |
| ENST00000691779.1:c.*1089_*1091del (RAF1) | ENSP00000508592.1:n.*1089_*1091del | |
| ENST00000691888.1:c.385_387del (RAF1) | ||
| ENST00000691899.1:c.1511_1513del (RAF1) | ENSP00000508763.1:p.Gln504del | |
| ENST00000692069.1:n.3868_3870del (RAF1) | ||
| ENST00000692093.1:c.1412_1414del (RAF1) | ENSP00000509669.1:p.Gln471del | |
| ENST00000692311.1:n.2335_2337del (RAF1) | ||
| ENST00000692558.1:n.3667_3669del (RAF1) | ||
| ENST00000692773.1:c.*1248_*1250del (RAF1) | ENSP00000509055.1:n.*1248_*1250del | |
| ENST00000692830.1:c.*1256_*1258del (RAF1) | ENSP00000509461.1:n.*1256_*1258del | |
| ENST00000693312.1:c.1286_1288del (RAF1) | ENSP00000508686.1:p.Gln429del | |
| ENST00000693664.1:c.1488-453_1488-451del (RAF1) | ENSP00000509614.1:n.1488-453_1488-451del | |
| ENST00000693705.1:c.*1048-725_*1048-723del (RAF1) | ENSP00000510697.1:n.*1048-725_*1048-723del | |
| ENST00000251849.9:c.1511_1513del (RAF1) MANE Select | ENSP00000251849.4:p.Gln504del | |
| ENST00000442415.7:c.1571_1573del (RAF1) | ENSP00000401888.2:p.Gln524del | |
| ENST00000676541.1:c.*3454_*3456del (MKRN2) | ENSP00000503730.1:n.*3454_*3456del | |
| ENST00000677142.1:c.*3454_*3456del (MKRN2) | ENSP00000504455.1:n.*3454_*3456del | |
| ENST00000677816.1:c.*2009_*2011del (MKRN2) | ENSP00000502893.1:n.*2009_*2011del | |
| ENST00000677941.1:n.3517_3519del (MKRN2) | ||
| ENST00000251849.8:c.1511_1513del (RAF1) | ENSP00000251849.4:p.Gln504del | |
| ENST00000423275.5:c.*1188_*1190del (RAF1) | ENSP00000401088.1:n.*1188_*1190del | |
| ENST00000432427.2:c.1148_1150del (RAF1) | ENSP00000398591.2:p.Gln383del | |
| ENST00000442415.6:c.1571_1573del (RAF1) | ENSP00000401888.2:p.Gln524del | |
| ENST00000471449.1:n.200_202del (RAF1) | ||
| NM_002880.3:c.1511_1513del , LRG_413t1:c.1511_1513del (RAF1) | NP_002871.1:p.Gln504del | |
| XM_005265355.1:c.1511_1513del (RAF1) | XP_005265412.1:p.Gln504del | |
| XM_005265357.1:c.1412_1414del (RAF1) | XP_005265414.1:p.Gln471del | |
| XM_005265358.3:c.1268_1270del (RAF1) | XP_005265415.1:p.Gln423del | |
| XM_005265359.3:c.1169_1171del (RAF1) | XP_005265416.1:p.Gln390del | |
| XM_005265360.1:c.1418-300_1418-298del (RAF1) | XP_005265417.1:n.1418-300_1418-298del | |
| XM_011533974.1:c.1511_1513del (RAF1) | XP_011532276.1:p.Gln504del | |
| XM_011533975.1:c.1268_1270del (RAF1) | XP_011532277.1:p.Gln423del | |
| NM_001354689.1:c.1571_1573del (RAF1) | NP_001341618.1:p.Gln524del | |
| NM_001354690.1:c.1511_1513del (RAF1) | NP_001341619.1:p.Gln504del | |
| NM_001354691.1:c.1268_1270del (RAF1) | NP_001341620.1:p.Gln423del | |
| NM_001354692.1:c.1268_1270del (RAF1) | NP_001341621.1:p.Gln423del | |
| NM_001354693.1:c.1412_1414del (RAF1) | NP_001341622.1:p.Gln471del | |
| NM_001354694.1:c.1328_1330del (RAF1) | NP_001341623.1:p.Gln443del | |
| NM_001354695.1:c.1169_1171del (RAF1) | NP_001341624.1:p.Gln390del | |
| NR_148940.1:n.2039_2041del (RAF1) | ||
| NR_148941.1:n.1985_1987del (RAF1) | ||
| NR_148942.1:n.1924_1926del (RAF1) | ||
| XM_011533974.3:c.1511_1513del (RAF1) | XP_011532276.1:p.Gln504del | |
| XM_017006966.1:c.1412_1414del (RAF1) | XP_016862455.1:p.Gln471del | |
| NM_001354689.3:c.1571_1573del (RAF1) | NP_001341618.1:p.Gln524del | |
| NM_001354690.2:c.1511_1513del (RAF1) | NP_001341619.1:p.Gln504del | |
| NM_001354691.2:c.1268_1270del (RAF1) | NP_001341620.1:p.Gln423del | |
| NM_001354692.2:c.1268_1270del (RAF1) | NP_001341621.1:p.Gln423del | |
| NM_001354693.2:c.1412_1414del (RAF1) | NP_001341622.1:p.Gln471del | |
| NM_001354694.2:c.1328_1330del (RAF1) | NP_001341623.1:p.Gln443del | |
| NM_001354695.2:c.1169_1171del (RAF1) | NP_001341624.1:p.Gln390del | |
| NR_148940.2:n.1955_1957del (RAF1) | ||
| NR_148941.2:n.1901_1903del (RAF1) | ||
| NR_148942.2:n.1840_1842del (RAF1) | ||
| NM_001354690.3:c.1511_1513del (RAF1) | NP_001341619.1:p.Gln504del | |
| NM_001354691.3:c.1268_1270del (RAF1) | NP_001341620.1:p.Gln423del | |
| NM_001354692.3:c.1268_1270del (RAF1) | NP_001341621.1:p.Gln423del | |
| NM_001354693.3:c.1412_1414del (RAF1) | NP_001341622.1:p.Gln471del | |
| NM_001354694.3:c.1328_1330del (RAF1) | NP_001341623.1:p.Gln443del | |
| NM_001354695.3:c.1169_1171del (RAF1) | NP_001341624.1:p.Gln390del | |
| NM_002880.4:c.1511_1513del (RAF1) MANE Select | NP_002871.1:p.Gln504del | |
| NR_148940.3:n.1955_1957del (RAF1) | ||
| NR_148941.3:n.1901_1903del (RAF1) | ||
| NR_148942.3:n.1840_1842del (RAF1) |