Canonical Allele Identifier: CA10588485
Gene: FAS HGNC NCBI

Linked Data

ClinVar Variation Id: 265400
ClinVar RCV Id: RCV000255803 RCV001382236
dbSNP Id: rs886039524
MyVariant Identifiers: chr10:g.90774078_90774079del (hg19) chr10:g.89014321_89014322del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89014321_89014322del , CM000672.2:g.89014321_89014322del GRCh38
NC_000010.10:g.90774078_90774079del , CM000672.1:g.90774078_90774079del GRCh37
NC_000010.9:g.90764058_90764059del NCBI36
NG_009089.2:g.28791_28792del , LRG_134:g.28791_28792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313771.10:n.1188_1189del
ENST00000355740.8:c.*202_*203del ENSP00000347979.3:n.*202_*203del
ENST00000357339.7:c.816_817del ENSP00000349896.2:p.Leu273AspfsTer2
ENST00000371857.8:n.2424_2425del
ENST00000460510.6:c.162_163del ENSP00000512812.1:p.Leu55AspfsTer2
ENST00000466081.6:n.2528_2529del
ENST00000477270.6:c.924_925del ENSP00000512813.1:p.Leu309AspfsTer2
ENST00000479522.6:c.*308_*309del ENSP00000424113.1:n.*308_*309del
ENST00000484444.6:c.*320_*321del ENSP00000420975.1:n.*320_*321del
ENST00000488877.6:c.770_771del ENSP00000425159.1:n.770_771del
ENST00000492756.7:c.*308_*309del ENSP00000422453.1:n.*308_*309del
ENST00000494799.6:c.162_163del ENSP00000512834.1:p.Leu55AspfsTer2
ENST00000562983.3:c.162_163del ENSP00000512845.1:p.Leu55AspfsTer2
ENST00000612663.6:c.*281_*282del ENSP00000477997.3:n.*281_*282del
ENST00000640140.2:n.1024_1025del
ENST00000640250.2:n.378_379del
ENST00000640681.2:n.983_984del
ENST00000696723.1:n.4512_4513del
ENST00000696741.1:n.2517_2518del
ENST00000696742.1:n.2244_2245del
ENST00000696743.1:n.3647_3648del
ENST00000696744.1:n.918_919del
ENST00000696767.1:n.1213_1214del
ENST00000696768.1:c.*202_*203del ENSP00000512859.1:n.*202_*203del
ENST00000696769.1:n.2568_2569del
ENST00000696771.1:c.162_163del ENSP00000512860.1:p.Leu55AspfsTer2
ENST00000696772.1:n.2482_2483del
ENST00000696773.1:n.2221_2222del
ENST00000696774.1:n.5989_5990del
ENST00000696776.1:c.972_973del ENSP00000512861.1:p.Leu325AspfsTer2
ENST00000696777.1:n.2287_2288del
ENST00000696778.1:n.1315_1316del
ENST00000696779.1:c.486_487del ENSP00000512862.1:p.Leu163AspfsTer2
ENST00000696780.1:c.909_910del ENSP00000512863.1:p.Leu304AspfsTer2
ENST00000696781.1:c.624_625del ENSP00000512864.1:p.Leu209AspfsTer2
ENST00000696782.1:c.*281_*282del ENSP00000512865.1:n.*281_*282del
ENST00000696783.1:n.2747_2748del
ENST00000696992.1:n.1996_1997del
ENST00000696995.1:n.4408_4409del
ENST00000696996.1:n.2321_2322del
ENST00000696997.1:c.*509_*510del ENSP00000513028.1:n.*509_*510del
ENST00000696998.1:n.2133_2134del
ENST00000696999.1:c.162_163del ENSP00000513029.1:p.Leu55AspfsTer2
ENST00000697036.1:c.*295_*296del ENSP00000513060.1:n.*295_*296del
ENST00000697037.1:n.914_915del
ENST00000697093.1:n.3115_3116del
ENST00000697094.1:n.3462_3463del
ENST00000697095.1:c.*2080_*2081del ENSP00000513104.1:n.*2080_*2081del
ENST00000697096.1:n.2012_2013del
ENST00000697097.1:c.162_163del ENSP00000513105.1:p.Leu55AspfsTer2
ENST00000562983.2:n.1065_1066del
ENST00000690268.1:c.960_961del ENSP00000509810.1:p.Leu321AspfsTer2
ENST00000355740.7:c.*205_*206del ENSP00000347979.3:n.*205_*206del
ENST00000612663.5:c.*281_*282del ENSP00000477997.3:n.*281_*282del
ENST00000640140.1:n.1051_1052del
ENST00000640250.1:n.378_379del
ENST00000640681.1:n.1000_1001del
ENST00000652046.1:c.879_880del MANE Select ENSP00000498466.1:p.Leu294AspfsTer2
ENST00000352159.8:c.*196_*197del ENSP00000345601.4:n.*196_*197del
ENST00000355279.2:c.854_855del ENSP00000347426.2:n.854_855del
ENST00000355740.6:c.879_880del ENSP00000347979.2:p.Leu294AspfsTer2
ENST00000357339.6:c.816_817del ENSP00000349896.2:p.Leu273AspfsTer2
ENST00000479522.5:c.*308_*309del ENSP00000424113.1:n.*308_*309del
ENST00000484444.5:c.*320_*321del ENSP00000420975.1:n.*320_*321del
ENST00000488877.5:c.*320_*321del ENSP00000425159.1:n.*320_*321del
ENST00000492756.5:c.707_708del ENSP00000422453.1:n.707_708del
ENST00000494410.5:c.*237_*238del ENSP00000423755.1:n.*237_*238del
ENST00000612663.4:c.*226_*227del ENSP00000477997.2:n.*226_*227del
NM_000043.4:c.879_880del , LRG_134t1:c.879_880del NP_000034.1:p.Leu294AspfsTer2
NM_152871.2:c.816_817del NP_690610.1:p.Leu273AspfsTer2
NM_152872.2:c.*191_*192del NP_690611.1:n.*191_*192del
NR_028033.2:n.1053_1054del
NR_028034.2:n.915_916del
NR_028035.2:n.978_979del
NR_028036.2:n.1116_1117del
XM_006717819.2:c.960_961del XP_006717882.1:p.Leu321AspfsTer2
XM_011539764.1:c.1041_1042del XP_011538066.1:p.Leu348AspfsTer2
XM_011539765.1:c.978_979del XP_011538067.1:p.Leu327AspfsTer2
XM_011539766.1:c.960_961del XP_011538068.1:p.Leu321AspfsTer2
XM_011539767.1:c.924_925del XP_011538069.1:p.Leu309AspfsTer2
XR_945732.1:n.947_948del
XR_945733.1:n.884_885del
NM_000043.5:c.879_880del NP_000034.1:p.Leu294AspfsTer2
NM_001320619.1:c.*202_*203del NP_001307548.1:n.*202_*203del
NM_152871.3:c.816_817del NP_690610.1:p.Leu273AspfsTer2
NM_152872.3:c.*191_*192del NP_690611.1:n.*191_*192del
NR_028033.3:n.1025_1026del
NR_028034.3:n.887_888del
NR_028035.3:n.950_951del
NR_028036.3:n.1088_1089del
NR_135313.1:n.1005_1006del
NR_135314.1:n.1188_1189del
NR_135315.1:n.941_942del
XM_006717819.3:c.960_961del XP_006717882.1:p.Leu321AspfsTer2
XM_011539764.2:c.1041_1042del XP_011538066.1:p.Leu348AspfsTer2
XM_011539765.2:c.978_979del XP_011538067.1:p.Leu327AspfsTer2
XM_011539766.2:c.960_961del XP_011538068.1:p.Leu321AspfsTer2
XM_011539767.3:c.924_925del XP_011538069.1:p.Leu309AspfsTer2
XR_945732.3:n.947_948del
XR_945733.2:n.884_885del
NM_000043.6:c.879_880del MANE Select NP_000034.1:p.Leu294AspfsTer2
NM_001320619.2:c.*202_*203del NP_001307548.1:n.*202_*203del
NM_152871.4:c.816_817del NP_690610.1:p.Leu273AspfsTer2
NM_152872.4:c.*191_*192del NP_690611.1:n.*191_*192del
NR_028033.4:n.786_787del
NR_028034.4:n.648_649del
NR_028035.4:n.711_712del
NR_028036.4:n.849_850del
NR_135313.2:n.766_767del
NR_135314.2:n.1045_1046del
NR_135315.2:n.798_799del
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