Canonical Allele Identifier: CA2740093474

Gene: FAS

Linked Data

• ClinVar Variation Id: 3024517
• ClinVar RCV Id: RCV003885402

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014135dup , CM000672.2:g.89014135dup	GRCh38
NC_000010.10:g.90773892dup , CM000672.1:g.90773892dup	GRCh37
NC_000010.9:g.90763872dup	NCBI36
NG_009089.2:g.28605dup , LRG_134:g.28605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1002dup
ENST00000355740.8:c.*16dup	ENSP00000347979.3:n.*16dup
ENST00000357339.7:c.630dup	ENSP00000349896.2:p.Tyr211IlefsTer15
ENST00000371857.8:n.2238dup
ENST00000460510.6:c.-25dup	ENSP00000512812.1:n.-25dup
ENST00000466081.6:n.2342dup
ENST00000477270.6:c.738dup	ENSP00000512813.1:p.Tyr247IlefsTer15
ENST00000479522.6:c.*122dup	ENSP00000424113.1:n.*122dup
ENST00000484444.6:c.*134dup	ENSP00000420975.1:n.*134dup
ENST00000488877.6:c.584dup	ENSP00000425159.1:n.584dup
ENST00000492756.7:c.*122dup	ENSP00000422453.1:n.*122dup
ENST00000494799.6:c.-25dup	ENSP00000512834.1:n.-25dup
ENST00000562983.3:c.-25dup	ENSP00000512845.1:n.-25dup
ENST00000612663.6:c.*95dup	ENSP00000477997.3:n.*95dup
ENST00000640140.2:n.838dup
ENST00000640250.2:n.192dup
ENST00000640681.2:n.797dup
ENST00000696723.1:n.4326dup
ENST00000696741.1:n.2331dup
ENST00000696742.1:n.2058dup
ENST00000696743.1:n.3461dup
ENST00000696744.1:n.732dup
ENST00000696767.1:n.1027dup
ENST00000696768.1:c.*16dup	ENSP00000512859.1:n.*16dup
ENST00000696769.1:n.2382dup
ENST00000696771.1:c.-25dup	ENSP00000512860.1:n.-25dup
ENST00000696772.1:n.2296dup
ENST00000696773.1:n.2035dup
ENST00000696774.1:n.5803dup
ENST00000696776.1:c.786dup	ENSP00000512861.1:p.Tyr263IlefsTer15
ENST00000696777.1:n.2101dup
ENST00000696778.1:n.1129dup
ENST00000696779.1:c.300dup	ENSP00000512862.1:p.Tyr101IlefsTer15
ENST00000696780.1:c.723dup	ENSP00000512863.1:p.Tyr242IlefsTer15
ENST00000696781.1:c.438dup	ENSP00000512864.1:p.Tyr147IlefsTer15
ENST00000696782.1:c.*95dup	ENSP00000512865.1:n.*95dup
ENST00000696783.1:n.2561dup
ENST00000696992.1:n.1810dup
ENST00000696995.1:n.4222dup
ENST00000696996.1:n.2135dup
ENST00000696997.1:c.*323dup	ENSP00000513028.1:n.*323dup
ENST00000696998.1:n.1947dup
ENST00000696999.1:c.-25dup	ENSP00000513029.1:n.-25dup
ENST00000697035.1:c.*26dup	ENSP00000513059.1:n.*26dup
ENST00000697036.1:c.*109dup	ENSP00000513060.1:n.*109dup
ENST00000697037.1:n.728dup
ENST00000697093.1:n.2929dup
ENST00000697094.1:n.3276dup
ENST00000697095.1:c.*1894dup	ENSP00000513104.1:n.*1894dup
ENST00000697096.1:n.1826dup
ENST00000697097.1:c.-25dup	ENSP00000513105.1:n.-25dup
ENST00000562983.2:n.879dup
ENST00000690268.1:c.774dup	ENSP00000509810.1:p.Tyr259IlefsTer15
ENST00000355740.7:c.*19dup	ENSP00000347979.3:n.*19dup
ENST00000612663.5:c.*95dup	ENSP00000477997.3:n.*95dup
ENST00000640140.1:n.865dup
ENST00000640250.1:n.192dup
ENST00000640681.1:n.814dup
ENST00000652046.1:c.693dup MANE Select	ENSP00000498466.1:p.Tyr232IlefsTer15
ENST00000313771.9:n.1002dup
ENST00000352159.8:c.*10dup	ENSP00000345601.4:n.*10dup
ENST00000355279.2:c.668dup	ENSP00000347426.2:n.668dup
ENST00000355740.6:c.693dup	ENSP00000347979.2:p.Tyr232IlefsTer15
ENST00000357339.6:c.630dup	ENSP00000349896.2:p.Tyr211IlefsTer15
ENST00000479522.5:c.*122dup	ENSP00000424113.1:n.*122dup
ENST00000484444.5:c.*134dup	ENSP00000420975.1:n.*134dup
ENST00000488877.5:c.*134dup	ENSP00000425159.1:n.*134dup
ENST00000492756.5:c.521dup	ENSP00000422453.1:n.521dup
ENST00000494410.5:c.*51dup	ENSP00000423755.1:n.*51dup
ENST00000494799.5:n.600dup
ENST00000612663.4:c.*40dup	ENSP00000477997.2:n.*40dup
ENST00000615406.4:c.693dup	ENSP00000484575.1:p.Tyr232IlefsTer15
ENST00000626542.2:c.693dup	ENSP00000485876.1:p.Tyr232IlefsTer9
NM_000043.4:c.693dup , LRG_134t1:c.693dup	NP_000034.1:p.Tyr232IlefsTer15
NM_152871.2:c.630dup	NP_690610.1:p.Tyr211IlefsTer15
NM_152872.2:c.*5dup	NP_690611.1:n.*5dup
NR_028033.2:n.867dup
NR_028034.2:n.729dup
NR_028035.2:n.792dup
NR_028036.2:n.930dup
XM_006717819.2:c.774dup	XP_006717882.1:p.Tyr259IlefsTer15
XM_011539764.1:c.855dup	XP_011538066.1:p.Tyr286IlefsTer15
XM_011539765.1:c.792dup	XP_011538067.1:p.Tyr265IlefsTer15
XM_011539766.1:c.774dup	XP_011538068.1:p.Tyr259IlefsTer15
XM_011539767.1:c.738dup	XP_011538069.1:p.Tyr247IlefsTer15
XR_945732.1:n.761dup
XR_945733.1:n.698dup
NM_000043.5:c.693dup	NP_000034.1:p.Tyr232IlefsTer15
NM_001320619.1:c.*16dup	NP_001307548.1:n.*16dup
NM_152871.3:c.630dup	NP_690610.1:p.Tyr211IlefsTer15
NM_152872.3:c.*5dup	NP_690611.1:n.*5dup
NR_028033.3:n.839dup
NR_028034.3:n.701dup
NR_028035.3:n.764dup
NR_028036.3:n.902dup
NR_135313.1:n.819dup
NR_135314.1:n.1002dup
NR_135315.1:n.755dup
XM_006717819.3:c.774dup	XP_006717882.1:p.Tyr259IlefsTer15
XM_011539764.2:c.855dup	XP_011538066.1:p.Tyr286IlefsTer15
XM_011539765.2:c.792dup	XP_011538067.1:p.Tyr265IlefsTer15
XM_011539766.2:c.774dup	XP_011538068.1:p.Tyr259IlefsTer15
XM_011539767.3:c.738dup	XP_011538069.1:p.Tyr247IlefsTer15
XR_945732.3:n.761dup
XR_945733.2:n.698dup
NM_000043.6:c.693dup MANE Select	NP_000034.1:p.Tyr232IlefsTer15
NM_001320619.2:c.*16dup	NP_001307548.1:n.*16dup
NM_152871.4:c.630dup	NP_690610.1:p.Tyr211IlefsTer15
NM_152872.4:c.*5dup	NP_690611.1:n.*5dup
NR_028033.4:n.600dup
NR_028034.4:n.462dup
NR_028035.4:n.525dup
NR_028036.4:n.663dup
NR_135313.2:n.580dup
NR_135314.2:n.859dup
NR_135315.2:n.612dup