Canonical Allele Identifier: CA2573145874

Gene: FAS

Linked Data

• ClinVar Variation Id: 1373595
• ClinVar RCV Id: RCV001900407
• dbSNP Id: rs2119445224

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014149_89014150insG , CM000672.2:g.89014149_89014150insG	GRCh38
NC_000010.10:g.90773906_90773907insG , CM000672.1:g.90773906_90773907insG	GRCh37
NC_000010.9:g.90763886_90763887insG	NCBI36
NG_009089.2:g.28619_28620insG , LRG_134:g.28619_28620insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1016_1017insG
ENST00000355740.8:c.*30_*31insG	ENSP00000347979.3:n.*30_*31insG
ENST00000357339.7:c.644_645insG	ENSP00000349896.2:p.Ile215MetfsTer11
ENST00000371857.8:n.2252_2253insG
ENST00000460510.6:c.-11_-10insG	ENSP00000512812.1:n.-11_-10insG
ENST00000466081.6:n.2356_2357insG
ENST00000477270.6:c.752_753insG	ENSP00000512813.1:p.Ile251MetfsTer11
ENST00000479522.6:c.*136_*137insG	ENSP00000424113.1:n.*136_*137insG
ENST00000484444.6:c.*148_*149insG	ENSP00000420975.1:n.*148_*149insG
ENST00000488877.6:c.598_599insG	ENSP00000425159.1:n.598_599insG
ENST00000492756.7:c.*136_*137insG	ENSP00000422453.1:n.*136_*137insG
ENST00000494799.6:c.-11_-10insG	ENSP00000512834.1:n.-11_-10insG
ENST00000562983.3:c.-11_-10insG	ENSP00000512845.1:n.-11_-10insG
ENST00000612663.6:c.*109_*110insG	ENSP00000477997.3:n.*109_*110insG
ENST00000640140.2:n.852_853insG
ENST00000640250.2:n.206_207insG
ENST00000640681.2:n.811_812insG
ENST00000696723.1:n.4340_4341insG
ENST00000696741.1:n.2345_2346insG
ENST00000696742.1:n.2072_2073insG
ENST00000696743.1:n.3475_3476insG
ENST00000696744.1:n.746_747insG
ENST00000696767.1:n.1041_1042insG
ENST00000696768.1:c.*30_*31insG	ENSP00000512859.1:n.*30_*31insG
ENST00000696769.1:n.2396_2397insG
ENST00000696771.1:c.-11_-10insG	ENSP00000512860.1:n.-11_-10insG
ENST00000696772.1:n.2310_2311insG
ENST00000696773.1:n.2049_2050insG
ENST00000696774.1:n.5817_5818insG
ENST00000696776.1:c.800_801insG	ENSP00000512861.1:p.Ile267MetfsTer11
ENST00000696777.1:n.2115_2116insG
ENST00000696778.1:n.1143_1144insG
ENST00000696779.1:c.314_315insG	ENSP00000512862.1:p.Ile105MetfsTer11
ENST00000696780.1:c.737_738insG	ENSP00000512863.1:p.Ile246MetfsTer11
ENST00000696781.1:c.452_453insG	ENSP00000512864.1:p.Ile151MetfsTer11
ENST00000696782.1:c.*109_*110insG	ENSP00000512865.1:n.*109_*110insG
ENST00000696783.1:n.2575_2576insG
ENST00000696992.1:n.1824_1825insG
ENST00000696995.1:n.4236_4237insG
ENST00000696996.1:n.2149_2150insG
ENST00000696997.1:c.*337_*338insG	ENSP00000513028.1:n.*337_*338insG
ENST00000696998.1:n.1961_1962insG
ENST00000696999.1:c.-11_-10insG	ENSP00000513029.1:n.-11_-10insG
ENST00000697035.1:c.*40_*41insG	ENSP00000513059.1:n.*40_*41insG
ENST00000697036.1:c.*123_*124insG	ENSP00000513060.1:n.*123_*124insG
ENST00000697037.1:n.742_743insG
ENST00000697093.1:n.2943_2944insG
ENST00000697094.1:n.3290_3291insG
ENST00000697095.1:c.*1908_*1909insG	ENSP00000513104.1:n.*1908_*1909insG
ENST00000697096.1:n.1840_1841insG
ENST00000697097.1:c.-11_-10insG	ENSP00000513105.1:n.-11_-10insG
ENST00000562983.2:n.893_894insG
ENST00000690268.1:c.788_789insG	ENSP00000509810.1:p.Ile263MetfsTer11
ENST00000355740.7:c.*33_*34insG	ENSP00000347979.3:n.*33_*34insG
ENST00000612663.5:c.*109_*110insG	ENSP00000477997.3:n.*109_*110insG
ENST00000640140.1:n.879_880insG
ENST00000640250.1:n.206_207insG
ENST00000640681.1:n.828_829insG
ENST00000652046.1:c.707_708insG MANE Select	ENSP00000498466.1:p.Ile236MetfsTer11
ENST00000313771.9:n.1016_1017insG
ENST00000352159.8:c.*24_*25insG	ENSP00000345601.4:n.*24_*25insG
ENST00000355279.2:c.682_683insG	ENSP00000347426.2:n.682_683insG
ENST00000355740.6:c.707_708insG	ENSP00000347979.2:p.Ile236MetfsTer11
ENST00000357339.6:c.644_645insG	ENSP00000349896.2:p.Ile215MetfsTer11
ENST00000479522.5:c.*136_*137insG	ENSP00000424113.1:n.*136_*137insG
ENST00000484444.5:c.*148_*149insG	ENSP00000420975.1:n.*148_*149insG
ENST00000488877.5:c.*148_*149insG	ENSP00000425159.1:n.*148_*149insG
ENST00000492756.5:c.535_536insG	ENSP00000422453.1:n.535_536insG
ENST00000494410.5:c.*65_*66insG	ENSP00000423755.1:n.*65_*66insG
ENST00000494799.5:n.614_615insG
ENST00000612663.4:c.*54_*55insG	ENSP00000477997.2:n.*54_*55insG
ENST00000615406.4:c.707_708insG	ENSP00000484575.1:p.Ile236MetfsTer11
ENST00000626542.2:c.705_706insG	ENSP00000485876.1:p.Cys236ValfsTer5
NM_000043.4:c.707_708insG , LRG_134t1:c.707_708insG	NP_000034.1:p.Ile236MetfsTer11
NM_152871.2:c.644_645insG	NP_690610.1:p.Ile215MetfsTer11
NM_152872.2:c.*19_*20insG	NP_690611.1:n.*19_*20insG
NR_028033.2:n.881_882insG
NR_028034.2:n.743_744insG
NR_028035.2:n.806_807insG
NR_028036.2:n.944_945insG
XM_006717819.2:c.788_789insG	XP_006717882.1:p.Ile263MetfsTer11
XM_011539764.1:c.869_870insG	XP_011538066.1:p.Ile290MetfsTer11
XM_011539765.1:c.806_807insG	XP_011538067.1:p.Ile269MetfsTer11
XM_011539766.1:c.788_789insG	XP_011538068.1:p.Ile263MetfsTer11
XM_011539767.1:c.752_753insG	XP_011538069.1:p.Ile251MetfsTer11
XR_945732.1:n.775_776insG
XR_945733.1:n.712_713insG
NM_000043.5:c.707_708insG	NP_000034.1:p.Ile236MetfsTer11
NM_001320619.1:c.*30_*31insG	NP_001307548.1:n.*30_*31insG
NM_152871.3:c.644_645insG	NP_690610.1:p.Ile215MetfsTer11
NM_152872.3:c.*19_*20insG	NP_690611.1:n.*19_*20insG
NR_028033.3:n.853_854insG
NR_028034.3:n.715_716insG
NR_028035.3:n.778_779insG
NR_028036.3:n.916_917insG
NR_135313.1:n.833_834insG
NR_135314.1:n.1016_1017insG
NR_135315.1:n.769_770insG
XM_006717819.3:c.788_789insG	XP_006717882.1:p.Ile263MetfsTer11
XM_011539764.2:c.869_870insG	XP_011538066.1:p.Ile290MetfsTer11
XM_011539765.2:c.806_807insG	XP_011538067.1:p.Ile269MetfsTer11
XM_011539766.2:c.788_789insG	XP_011538068.1:p.Ile263MetfsTer11
XM_011539767.3:c.752_753insG	XP_011538069.1:p.Ile251MetfsTer11
XR_945732.3:n.775_776insG
XR_945733.2:n.712_713insG
NM_000043.6:c.707_708insG MANE Select	NP_000034.1:p.Ile236MetfsTer11
NM_001320619.2:c.*30_*31insG	NP_001307548.1:n.*30_*31insG
NM_152871.4:c.644_645insG	NP_690610.1:p.Ile215MetfsTer11
NM_152872.4:c.*19_*20insG	NP_690611.1:n.*19_*20insG
NR_028033.4:n.614_615insG
NR_028034.4:n.476_477insG
NR_028035.4:n.539_540insG
NR_028036.4:n.677_678insG
NR_135313.2:n.594_595insG
NR_135314.2:n.873_874insG
NR_135315.2:n.626_627insG