Canonical Allele Identifier: CA212975

Gene: FAS

Linked Data

• ClinVar Variation Id: 16515
• ClinVar RCV Id: RCV000017979
• dbSNP Id: rs606231366
• MyVariant Identifiers: chr10:g.90773891_90773892insT (hg19) ; chr10:g.89014134_89014135insT (hg38)
• PubMed: PMID:4165068 ; PMID:8929361

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014134_89014135insT , CM000672.2:g.89014134_89014135insT	GRCh38
NC_000010.10:g.90773891_90773892insT , CM000672.1:g.90773891_90773892insT	GRCh37
NC_000010.9:g.90763871_90763872insT	NCBI36
NG_009089.2:g.28604_28605insT , LRG_134:g.28604_28605insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1001_1002insT
ENST00000355740.8:c.*15_*16insT	ENSP00000347979.3:n.*15_*16insT
ENST00000357339.7:c.629_630insT	ENSP00000349896.2:p.Lys210AsnfsTer16
ENST00000371857.8:n.2237_2238insT
ENST00000460510.6:c.-26_-25insT	ENSP00000512812.1:n.-26_-25insT
ENST00000466081.6:n.2341_2342insT
ENST00000477270.6:c.737_738insT	ENSP00000512813.1:p.Lys246AsnfsTer16
ENST00000479522.6:c.*121_*122insT	ENSP00000424113.1:n.*121_*122insT
ENST00000484444.6:c.*133_*134insT	ENSP00000420975.1:n.*133_*134insT
ENST00000488877.6:c.583_584insT	ENSP00000425159.1:n.583_584insT
ENST00000492756.7:c.*121_*122insT	ENSP00000422453.1:n.*121_*122insT
ENST00000494799.6:c.-26_-25insT	ENSP00000512834.1:n.-26_-25insT
ENST00000562983.3:c.-26_-25insT	ENSP00000512845.1:n.-26_-25insT
ENST00000612663.6:c.*94_*95insT	ENSP00000477997.3:n.*94_*95insT
ENST00000640140.2:n.837_838insT
ENST00000640250.2:n.191_192insT
ENST00000640681.2:n.796_797insT
ENST00000696723.1:n.4325_4326insT
ENST00000696741.1:n.2330_2331insT
ENST00000696742.1:n.2057_2058insT
ENST00000696743.1:n.3460_3461insT
ENST00000696744.1:n.731_732insT
ENST00000696767.1:n.1026_1027insT
ENST00000696768.1:c.*15_*16insT	ENSP00000512859.1:n.*15_*16insT
ENST00000696769.1:n.2381_2382insT
ENST00000696771.1:c.-26_-25insT	ENSP00000512860.1:n.-26_-25insT
ENST00000696772.1:n.2295_2296insT
ENST00000696773.1:n.2034_2035insT
ENST00000696774.1:n.5802_5803insT
ENST00000696776.1:c.785_786insT	ENSP00000512861.1:p.Lys262AsnfsTer16
ENST00000696777.1:n.2100_2101insT
ENST00000696778.1:n.1128_1129insT
ENST00000696779.1:c.299_300insT	ENSP00000512862.1:p.Lys100AsnfsTer16
ENST00000696780.1:c.722_723insT	ENSP00000512863.1:p.Lys241AsnfsTer16
ENST00000696781.1:c.437_438insT	ENSP00000512864.1:p.Lys146AsnfsTer16
ENST00000696782.1:c.*94_*95insT	ENSP00000512865.1:n.*94_*95insT
ENST00000696783.1:n.2560_2561insT
ENST00000696992.1:n.1809_1810insT
ENST00000696995.1:n.4221_4222insT
ENST00000696996.1:n.2134_2135insT
ENST00000696997.1:c.*322_*323insT	ENSP00000513028.1:n.*322_*323insT
ENST00000696998.1:n.1946_1947insT
ENST00000696999.1:c.-26_-25insT	ENSP00000513029.1:n.-26_-25insT
ENST00000697035.1:c.*25_*26insT	ENSP00000513059.1:n.*25_*26insT
ENST00000697036.1:c.*108_*109insT	ENSP00000513060.1:n.*108_*109insT
ENST00000697037.1:n.727_728insT
ENST00000697093.1:n.2928_2929insT
ENST00000697094.1:n.3275_3276insT
ENST00000697095.1:c.*1893_*1894insT	ENSP00000513104.1:n.*1893_*1894insT
ENST00000697096.1:n.1825_1826insT
ENST00000697097.1:c.-26_-25insT	ENSP00000513105.1:n.-26_-25insT
ENST00000562983.2:n.878_879insT
ENST00000690268.1:c.773_774insT	ENSP00000509810.1:p.Lys258AsnfsTer16
ENST00000355740.7:c.*18_*19insT	ENSP00000347979.3:n.*18_*19insT
ENST00000612663.5:c.*94_*95insT	ENSP00000477997.3:n.*94_*95insT
ENST00000640140.1:n.864_865insT
ENST00000640250.1:n.191_192insT
ENST00000640681.1:n.813_814insT
ENST00000652046.1:c.692_693insT MANE Select	ENSP00000498466.1:p.Lys231AsnfsTer16
ENST00000313771.9:n.1001_1002insT
ENST00000352159.8:c.*9_*10insT	ENSP00000345601.4:n.*9_*10insT
ENST00000355279.2:c.667_668insT	ENSP00000347426.2:n.667_668insT
ENST00000355740.6:c.692_693insT	ENSP00000347979.2:p.Lys231AsnfsTer16
ENST00000357339.6:c.629_630insT	ENSP00000349896.2:p.Lys210AsnfsTer16
ENST00000479522.5:c.*121_*122insT	ENSP00000424113.1:n.*121_*122insT
ENST00000484444.5:c.*133_*134insT	ENSP00000420975.1:n.*133_*134insT
ENST00000488877.5:c.*133_*134insT	ENSP00000425159.1:n.*133_*134insT
ENST00000492756.5:c.520_521insT	ENSP00000422453.1:n.520_521insT
ENST00000494410.5:c.*50_*51insT	ENSP00000423755.1:n.*50_*51insT
ENST00000494799.5:n.599_600insT
ENST00000612663.4:c.*39_*40insT	ENSP00000477997.2:n.*39_*40insT
ENST00000615406.4:c.692_693insT	ENSP00000484575.1:p.Lys231AsnfsTer16
ENST00000626542.2:c.692_693insT	ENSP00000485876.1:p.Lys231AsnfsTer10
NM_000043.4:c.692_693insT , LRG_134t1:c.692_693insT	NP_000034.1:p.Lys231AsnfsTer16
NM_152871.2:c.629_630insT	NP_690610.1:p.Lys210AsnfsTer16
NM_152872.2:c.*4_*5insT	NP_690611.1:n.*4_*5insT
NR_028033.2:n.866_867insT
NR_028034.2:n.728_729insT
NR_028035.2:n.791_792insT
NR_028036.2:n.929_930insT
XM_006717819.2:c.773_774insT	XP_006717882.1:p.Lys258AsnfsTer16
XM_011539764.1:c.854_855insT	XP_011538066.1:p.Lys285AsnfsTer16
XM_011539765.1:c.791_792insT	XP_011538067.1:p.Lys264AsnfsTer16
XM_011539766.1:c.773_774insT	XP_011538068.1:p.Lys258AsnfsTer16
XM_011539767.1:c.737_738insT	XP_011538069.1:p.Lys246AsnfsTer16
XR_945732.1:n.760_761insT
XR_945733.1:n.697_698insT
NM_000043.5:c.692_693insT	NP_000034.1:p.Lys231AsnfsTer16
NM_001320619.1:c.*15_*16insT	NP_001307548.1:n.*15_*16insT
NM_152871.3:c.629_630insT	NP_690610.1:p.Lys210AsnfsTer16
NM_152872.3:c.*4_*5insT	NP_690611.1:n.*4_*5insT
NR_028033.3:n.838_839insT
NR_028034.3:n.700_701insT
NR_028035.3:n.763_764insT
NR_028036.3:n.901_902insT
NR_135313.1:n.818_819insT
NR_135314.1:n.1001_1002insT
NR_135315.1:n.754_755insT
XM_006717819.3:c.773_774insT	XP_006717882.1:p.Lys258AsnfsTer16
XM_011539764.2:c.854_855insT	XP_011538066.1:p.Lys285AsnfsTer16
XM_011539765.2:c.791_792insT	XP_011538067.1:p.Lys264AsnfsTer16
XM_011539766.2:c.773_774insT	XP_011538068.1:p.Lys258AsnfsTer16
XM_011539767.3:c.737_738insT	XP_011538069.1:p.Lys246AsnfsTer16
XR_945732.3:n.760_761insT
XR_945733.2:n.697_698insT
NM_000043.6:c.692_693insT MANE Select	NP_000034.1:p.Lys231AsnfsTer16
NM_001320619.2:c.*15_*16insT	NP_001307548.1:n.*15_*16insT
NM_152871.4:c.629_630insT	NP_690610.1:p.Lys210AsnfsTer16
NM_152872.4:c.*4_*5insT	NP_690611.1:n.*4_*5insT
NR_028033.4:n.599_600insT
NR_028034.4:n.461_462insT
NR_028035.4:n.524_525insT
NR_028036.4:n.662_663insT
NR_135313.2:n.579_580insT
NR_135314.2:n.858_859insT
NR_135315.2:n.611_612insT