Canonical Allele Identifier: CA2580082342

Gene: FAS

Linked Data

• ClinVar Variation Id: 1701144
• ClinVar RCV Id: RCV002275956 ; RCV003517361
• dbSNP Id: rs2119445087

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014127_89014128del , CM000672.2:g.89014127_89014128del	GRCh38
NC_000010.10:g.90773884_90773885del , CM000672.1:g.90773884_90773885del	GRCh37
NC_000010.9:g.90763864_90763865del	NCBI36
NG_009089.2:g.28597_28598del , LRG_134:g.28597_28598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.994_995del
ENST00000355740.8:c.*8_*9del	ENSP00000347979.3:n.*8_*9del
ENST00000357339.7:c.622_623del	ENSP00000349896.2:p.Leu208GlufsTer2
ENST00000371857.8:n.2230_2231del
ENST00000460510.6:c.-33_-32del	ENSP00000512812.1:n.-33_-32del
ENST00000466081.6:n.2334_2335del
ENST00000477270.6:c.730_731del	ENSP00000512813.1:p.Leu244GlufsTer2
ENST00000479522.6:c.*114_*115del	ENSP00000424113.1:n.*114_*115del
ENST00000484444.6:c.*126_*127del	ENSP00000420975.1:n.*126_*127del
ENST00000488877.6:c.576_577del	ENSP00000425159.1:n.576_577del
ENST00000492756.7:c.*114_*115del	ENSP00000422453.1:n.*114_*115del
ENST00000494799.6:c.-33_-32del	ENSP00000512834.1:n.-33_-32del
ENST00000562983.3:c.-33_-32del	ENSP00000512845.1:n.-33_-32del
ENST00000612663.6:c.*87_*88del	ENSP00000477997.3:n.*87_*88del
ENST00000640140.2:n.830_831del
ENST00000640250.2:n.184_185del
ENST00000640681.2:n.789_790del
ENST00000696723.1:n.4318_4319del
ENST00000696741.1:n.2323_2324del
ENST00000696742.1:n.2050_2051del
ENST00000696743.1:n.3453_3454del
ENST00000696744.1:n.724_725del
ENST00000696767.1:n.1019_1020del
ENST00000696768.1:c.*8_*9del	ENSP00000512859.1:n.*8_*9del
ENST00000696769.1:n.2374_2375del
ENST00000696771.1:c.-33_-32del	ENSP00000512860.1:n.-33_-32del
ENST00000696772.1:n.2288_2289del
ENST00000696773.1:n.2027_2028del
ENST00000696774.1:n.5795_5796del
ENST00000696776.1:c.778_779del	ENSP00000512861.1:p.Leu260GlufsTer2
ENST00000696777.1:n.2093_2094del
ENST00000696778.1:n.1121_1122del
ENST00000696779.1:c.292_293del	ENSP00000512862.1:p.Leu98GlufsTer2
ENST00000696780.1:c.715_716del	ENSP00000512863.1:p.Leu239GlufsTer2
ENST00000696781.1:c.430_431del	ENSP00000512864.1:p.Leu144GlufsTer2
ENST00000696782.1:c.*87_*88del	ENSP00000512865.1:n.*87_*88del
ENST00000696783.1:n.2553_2554del
ENST00000696992.1:n.1802_1803del
ENST00000696995.1:n.4214_4215del
ENST00000696996.1:n.2127_2128del
ENST00000696997.1:c.*315_*316del	ENSP00000513028.1:n.*315_*316del
ENST00000696998.1:n.1939_1940del
ENST00000696999.1:c.-33_-32del	ENSP00000513029.1:n.-33_-32del
ENST00000697035.1:c.*18_*19del	ENSP00000513059.1:n.*18_*19del
ENST00000697036.1:c.*101_*102del	ENSP00000513060.1:n.*101_*102del
ENST00000697037.1:n.720_721del
ENST00000697093.1:n.2921_2922del
ENST00000697094.1:n.3268_3269del
ENST00000697095.1:c.*1886_*1887del	ENSP00000513104.1:n.*1886_*1887del
ENST00000697096.1:n.1818_1819del
ENST00000697097.1:c.-33_-32del	ENSP00000513105.1:n.-33_-32del
ENST00000562983.2:n.871_872del
ENST00000690268.1:c.766_767del	ENSP00000509810.1:p.Leu256GlufsTer2
ENST00000355740.7:c.*11_*12del	ENSP00000347979.3:n.*11_*12del
ENST00000612663.5:c.*87_*88del	ENSP00000477997.3:n.*87_*88del
ENST00000640140.1:n.857_858del
ENST00000640250.1:n.184_185del
ENST00000640681.1:n.806_807del
ENST00000652046.1:c.685_686del MANE Select	ENSP00000498466.1:p.Leu229GlufsTer2
ENST00000313771.9:n.994_995del
ENST00000352159.8:c.*2_*3del	ENSP00000345601.4:n.*2_*3del
ENST00000355279.2:c.660_661del	ENSP00000347426.2:p.Ter221SerextTer?
ENST00000355740.6:c.685_686del	ENSP00000347979.2:p.Leu229GlufsTer2
ENST00000357339.6:c.622_623del	ENSP00000349896.2:p.Leu208GlufsTer2
ENST00000479522.5:c.*114_*115del	ENSP00000424113.1:n.*114_*115del
ENST00000484444.5:c.*126_*127del	ENSP00000420975.1:n.*126_*127del
ENST00000488877.5:c.*126_*127del	ENSP00000425159.1:n.*126_*127del
ENST00000492756.5:c.513_514del	ENSP00000422453.1:n.513_514del
ENST00000494410.5:c.*43_*44del	ENSP00000423755.1:n.*43_*44del
ENST00000494799.5:n.592_593del
ENST00000612663.4:c.*32_*33del	ENSP00000477997.2:n.*32_*33del
ENST00000615406.4:c.685_686del	ENSP00000484575.1:p.Leu229GlufsTer2
ENST00000626542.2:c.685_686del	ENSP00000485876.1:p.Leu229GlufsTer2
NM_000043.4:c.685_686del , LRG_134t1:c.685_686del	NP_000034.1:p.Leu229GlufsTer2
NM_152871.2:c.622_623del	NP_690610.1:p.Leu208GlufsTer2
NM_152872.2:c.660_661del	NP_690611.1:p.Ter221SerextTer?
NR_028033.2:n.859_860del
NR_028034.2:n.721_722del
NR_028035.2:n.784_785del
NR_028036.2:n.922_923del
XM_006717819.2:c.766_767del	XP_006717882.1:p.Leu256GlufsTer2
XM_011539764.1:c.847_848del	XP_011538066.1:p.Leu283GlufsTer2
XM_011539765.1:c.784_785del	XP_011538067.1:p.Leu262GlufsTer2
XM_011539766.1:c.766_767del	XP_011538068.1:p.Leu256GlufsTer2
XM_011539767.1:c.730_731del	XP_011538069.1:p.Leu244GlufsTer2
XR_945732.1:n.753_754del
XR_945733.1:n.690_691del
NM_000043.5:c.685_686del	NP_000034.1:p.Leu229GlufsTer2
NM_001320619.1:c.*8_*9del	NP_001307548.1:n.*8_*9del
NM_152871.3:c.622_623del	NP_690610.1:p.Leu208GlufsTer2
NM_152872.3:c.660_661del	NP_690611.1:p.Ter221SerextTer?
NR_028033.3:n.831_832del
NR_028034.3:n.693_694del
NR_028035.3:n.756_757del
NR_028036.3:n.894_895del
NR_135313.1:n.811_812del
NR_135314.1:n.994_995del
NR_135315.1:n.747_748del
XM_006717819.3:c.766_767del	XP_006717882.1:p.Leu256GlufsTer2
XM_011539764.2:c.847_848del	XP_011538066.1:p.Leu283GlufsTer2
XM_011539765.2:c.784_785del	XP_011538067.1:p.Leu262GlufsTer2
XM_011539766.2:c.766_767del	XP_011538068.1:p.Leu256GlufsTer2
XM_011539767.3:c.730_731del	XP_011538069.1:p.Leu244GlufsTer2
XR_945732.3:n.753_754del
XR_945733.2:n.690_691del
NM_000043.6:c.685_686del MANE Select	NP_000034.1:p.Leu229GlufsTer2
NM_001320619.2:c.*8_*9del	NP_001307548.1:n.*8_*9del
NM_152871.4:c.622_623del	NP_690610.1:p.Leu208GlufsTer2
NM_152872.4:c.660_661del	NP_690611.1:p.Ter221SerextTer?
NR_028033.4:n.592_593del
NR_028034.4:n.454_455del
NR_028035.4:n.517_518del
NR_028036.4:n.655_656del
NR_135313.2:n.572_573del
NR_135314.2:n.851_852del
NR_135315.2:n.604_605del