Canonical Allele Identifier: CA2573145875
Gene: FAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1357498
ClinVar RCV Id: RCV001878381
dbSNP Id: rs2119446366

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89014258del , CM000672.2:g.89014258del GRCh38
NC_000010.10:g.90774015del , CM000672.1:g.90774015del GRCh37
NC_000010.9:g.90763995del NCBI36
NG_009089.2:g.28728del , LRG_134:g.28728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313771.10:n.1125del
ENST00000355740.8:c.*139del ENSP00000347979.3:n.*139del
ENST00000357339.7:c.753del ENSP00000349896.2:p.Glu251AspfsTer23
ENST00000371857.8:n.2361del
ENST00000460510.6:c.99del ENSP00000512812.1:p.Glu33AspfsTer23
ENST00000466081.6:n.2465del
ENST00000477270.6:c.861del ENSP00000512813.1:p.Glu287AspfsTer23
ENST00000479522.6:c.*245del ENSP00000424113.1:n.*245del
ENST00000484444.6:c.*257del ENSP00000420975.1:n.*257del
ENST00000488877.6:c.707del ENSP00000425159.1:n.707del
ENST00000492756.7:c.*245del ENSP00000422453.1:n.*245del
ENST00000494799.6:c.99del ENSP00000512834.1:p.Glu33AspfsTer23
ENST00000562983.3:c.99del ENSP00000512845.1:p.Glu33AspfsTer23
ENST00000612663.6:c.*218del ENSP00000477997.3:n.*218del
ENST00000640140.2:n.961del
ENST00000640250.2:n.315del
ENST00000640681.2:n.920del
ENST00000696723.1:n.4449del
ENST00000696741.1:n.2454del
ENST00000696742.1:n.2181del
ENST00000696743.1:n.3584del
ENST00000696744.1:n.855del
ENST00000696767.1:n.1150del
ENST00000696768.1:c.*139del ENSP00000512859.1:n.*139del
ENST00000696769.1:n.2505del
ENST00000696771.1:c.99del ENSP00000512860.1:p.Glu33AspfsTer23
ENST00000696772.1:n.2419del
ENST00000696773.1:n.2158del
ENST00000696774.1:n.5926del
ENST00000696776.1:c.909del ENSP00000512861.1:p.Glu303AspfsTer23
ENST00000696777.1:n.2224del
ENST00000696778.1:n.1252del
ENST00000696779.1:c.423del ENSP00000512862.1:p.Glu141AspfsTer23
ENST00000696780.1:c.846del ENSP00000512863.1:p.Glu282AspfsTer23
ENST00000696781.1:c.561del ENSP00000512864.1:p.Glu187AspfsTer23
ENST00000696782.1:c.*218del ENSP00000512865.1:n.*218del
ENST00000696783.1:n.2684del
ENST00000696992.1:n.1933del
ENST00000696995.1:n.4345del
ENST00000696996.1:n.2258del
ENST00000696997.1:c.*446del ENSP00000513028.1:n.*446del
ENST00000696998.1:n.2070del
ENST00000696999.1:c.99del ENSP00000513029.1:p.Glu33AspfsTer23
ENST00000697035.1:c.*149del ENSP00000513059.1:n.*149del
ENST00000697036.1:c.*232del ENSP00000513060.1:n.*232del
ENST00000697037.1:n.851del
ENST00000697093.1:n.3052del
ENST00000697094.1:n.3399del
ENST00000697095.1:c.*2017del ENSP00000513104.1:n.*2017del
ENST00000697096.1:n.1949del
ENST00000697097.1:c.99del ENSP00000513105.1:p.Glu33AspfsTer23
ENST00000562983.2:n.1002del
ENST00000690268.1:c.897del ENSP00000509810.1:p.Glu299AspfsTer23
ENST00000355740.7:c.*142del ENSP00000347979.3:n.*142del
ENST00000612663.5:c.*218del ENSP00000477997.3:n.*218del
ENST00000640140.1:n.988del
ENST00000640250.1:n.315del
ENST00000640681.1:n.937del
ENST00000652046.1:c.816del MANE Select ENSP00000498466.1:p.Glu272AspfsTer23
ENST00000352159.8:c.*133del ENSP00000345601.4:n.*133del
ENST00000355279.2:c.791del ENSP00000347426.2:n.791del
ENST00000355740.6:c.816del ENSP00000347979.2:p.Glu272AspfsTer23
ENST00000357339.6:c.753del ENSP00000349896.2:p.Glu251AspfsTer23
ENST00000479522.5:c.*245del ENSP00000424113.1:n.*245del
ENST00000484444.5:c.*257del ENSP00000420975.1:n.*257del
ENST00000488877.5:c.*257del ENSP00000425159.1:n.*257del
ENST00000492756.5:c.644del ENSP00000422453.1:n.644del
ENST00000494410.5:c.*174del ENSP00000423755.1:n.*174del
ENST00000612663.4:c.*163del ENSP00000477997.2:n.*163del
NM_000043.4:c.816del , LRG_134t1:c.816del NP_000034.1:p.Glu272AspfsTer23
NM_152871.2:c.753del NP_690610.1:p.Glu251AspfsTer23
NM_152872.2:c.*128del NP_690611.1:n.*128del
NR_028033.2:n.990del
NR_028034.2:n.852del
NR_028035.2:n.915del
NR_028036.2:n.1053del
XM_006717819.2:c.897del XP_006717882.1:p.Glu299AspfsTer23
XM_011539764.1:c.978del XP_011538066.1:p.Glu326AspfsTer23
XM_011539765.1:c.915del XP_011538067.1:p.Glu305AspfsTer23
XM_011539766.1:c.897del XP_011538068.1:p.Glu299AspfsTer23
XM_011539767.1:c.861del XP_011538069.1:p.Glu287AspfsTer23
XR_945732.1:n.884del
XR_945733.1:n.821del
NM_000043.5:c.816del NP_000034.1:p.Glu272AspfsTer23
NM_001320619.1:c.*139del NP_001307548.1:n.*139del
NM_152871.3:c.753del NP_690610.1:p.Glu251AspfsTer23
NM_152872.3:c.*128del NP_690611.1:n.*128del
NR_028033.3:n.962del
NR_028034.3:n.824del
NR_028035.3:n.887del
NR_028036.3:n.1025del
NR_135313.1:n.942del
NR_135314.1:n.1125del
NR_135315.1:n.878del
XM_006717819.3:c.897del XP_006717882.1:p.Glu299AspfsTer23
XM_011539764.2:c.978del XP_011538066.1:p.Glu326AspfsTer23
XM_011539765.2:c.915del XP_011538067.1:p.Glu305AspfsTer23
XM_011539766.2:c.897del XP_011538068.1:p.Glu299AspfsTer23
XM_011539767.3:c.861del XP_011538069.1:p.Glu287AspfsTer23
XR_945732.3:n.884del
XR_945733.2:n.821del
NM_000043.6:c.816del MANE Select NP_000034.1:p.Glu272AspfsTer23
NM_001320619.2:c.*139del NP_001307548.1:n.*139del
NM_152871.4:c.753del NP_690610.1:p.Glu251AspfsTer23
NM_152872.4:c.*128del NP_690611.1:n.*128del
NR_028033.4:n.723del
NR_028034.4:n.585del
NR_028035.4:n.648del
NR_028036.4:n.786del
NR_135313.2:n.703del
NR_135314.2:n.982del
NR_135315.2:n.735del