Canonical Allele Identifier: CA2580082345
Gene: FAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1703254
ClinVar RCV Id: RCV002305674

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89014160_89014161insGTCG , CM000672.2:g.89014160_89014161insGTCG GRCh38
NC_000010.10:g.90773917_90773918insGTCG , CM000672.1:g.90773917_90773918insGTCG GRCh37
NC_000010.9:g.90763897_90763898insGTCG NCBI36
NG_009089.2:g.28630_28631insGTCG , LRG_134:g.28630_28631insGTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000313771.10:n.1027_1028insGTCG
ENST00000355740.8:c.*41_*42insGTCG ENSP00000347979.3:n.*41_*42insGTCG
ENST00000357339.7:c.655_656insGTCG ENSP00000349896.2:p.Met219SerfsTer8
ENST00000371857.8:n.2263_2264insGTCG
ENST00000460510.6:c.1_2insGTCG ENSP00000512812.1:p.Met1SerfsTer8
ENST00000466081.6:n.2367_2368insGTCG
ENST00000477270.6:c.763_764insGTCG ENSP00000512813.1:p.Met255SerfsTer8
ENST00000479522.6:c.*147_*148insGTCG ENSP00000424113.1:n.*147_*148insGTCG
ENST00000484444.6:c.*159_*160insGTCG ENSP00000420975.1:n.*159_*160insGTCG
ENST00000488877.6:c.609_610insGTCG ENSP00000425159.1:n.609_610insGTCG
ENST00000492756.7:c.*147_*148insGTCG ENSP00000422453.1:n.*147_*148insGTCG
ENST00000494799.6:c.1_2insGTCG ENSP00000512834.1:p.Met1SerfsTer8
ENST00000562983.3:c.1_2insGTCG ENSP00000512845.1:p.Met1SerfsTer8
ENST00000612663.6:c.*120_*121insGTCG ENSP00000477997.3:n.*120_*121insGTCG
ENST00000640140.2:n.863_864insGTCG
ENST00000640250.2:n.217_218insGTCG
ENST00000640681.2:n.822_823insGTCG
ENST00000696723.1:n.4351_4352insGTCG
ENST00000696741.1:n.2356_2357insGTCG
ENST00000696742.1:n.2083_2084insGTCG
ENST00000696743.1:n.3486_3487insGTCG
ENST00000696744.1:n.757_758insGTCG
ENST00000696767.1:n.1052_1053insGTCG
ENST00000696768.1:c.*41_*42insGTCG ENSP00000512859.1:n.*41_*42insGTCG
ENST00000696769.1:n.2407_2408insGTCG
ENST00000696771.1:c.1_2insGTCG ENSP00000512860.1:p.Met1SerfsTer8
ENST00000696772.1:n.2321_2322insGTCG
ENST00000696773.1:n.2060_2061insGTCG
ENST00000696774.1:n.5828_5829insGTCG
ENST00000696776.1:c.811_812insGTCG ENSP00000512861.1:p.Met271SerfsTer8
ENST00000696777.1:n.2126_2127insGTCG
ENST00000696778.1:n.1154_1155insGTCG
ENST00000696779.1:c.325_326insGTCG ENSP00000512862.1:p.Met109SerfsTer8
ENST00000696780.1:c.748_749insGTCG ENSP00000512863.1:p.Met250SerfsTer8
ENST00000696781.1:c.463_464insGTCG ENSP00000512864.1:p.Met155SerfsTer8
ENST00000696782.1:c.*120_*121insGTCG ENSP00000512865.1:n.*120_*121insGTCG
ENST00000696783.1:n.2586_2587insGTCG
ENST00000696992.1:n.1835_1836insGTCG
ENST00000696995.1:n.4247_4248insGTCG
ENST00000696996.1:n.2160_2161insGTCG
ENST00000696997.1:c.*348_*349insGTCG ENSP00000513028.1:n.*348_*349insGTCG
ENST00000696998.1:n.1972_1973insGTCG
ENST00000696999.1:c.1_2insGTCG ENSP00000513029.1:p.Met1SerfsTer8
ENST00000697035.1:c.*51_*52insGTCG ENSP00000513059.1:n.*51_*52insGTCG
ENST00000697036.1:c.*134_*135insGTCG ENSP00000513060.1:n.*134_*135insGTCG
ENST00000697037.1:n.753_754insGTCG
ENST00000697093.1:n.2954_2955insGTCG
ENST00000697094.1:n.3301_3302insGTCG
ENST00000697095.1:c.*1919_*1920insGTCG ENSP00000513104.1:n.*1919_*1920insGTCG
ENST00000697096.1:n.1851_1852insGTCG
ENST00000697097.1:c.1_2insGTCG ENSP00000513105.1:p.Met1SerfsTer8
ENST00000562983.2:n.904_905insGTCG
ENST00000690268.1:c.799_800insGTCG ENSP00000509810.1:p.Met267SerfsTer8
ENST00000355740.7:c.*44_*45insGTCG ENSP00000347979.3:n.*44_*45insGTCG
ENST00000612663.5:c.*120_*121insGTCG ENSP00000477997.3:n.*120_*121insGTCG
ENST00000640140.1:n.890_891insGTCG
ENST00000640250.1:n.217_218insGTCG
ENST00000640681.1:n.839_840insGTCG
ENST00000652046.1:c.718_719insGTCG MANE Select ENSP00000498466.1:p.Met240SerfsTer8
ENST00000313771.9:n.1027_1028insGTCG
ENST00000352159.8:c.*35_*36insGTCG ENSP00000345601.4:n.*35_*36insGTCG
ENST00000355279.2:c.693_694insGTCG ENSP00000347426.2:n.693_694insGTCG
ENST00000355740.6:c.718_719insGTCG ENSP00000347979.2:p.Met240SerfsTer8
ENST00000357339.6:c.655_656insGTCG ENSP00000349896.2:p.Met219SerfsTer8
ENST00000479522.5:c.*147_*148insGTCG ENSP00000424113.1:n.*147_*148insGTCG
ENST00000484444.5:c.*159_*160insGTCG ENSP00000420975.1:n.*159_*160insGTCG
ENST00000488877.5:c.*159_*160insGTCG ENSP00000425159.1:n.*159_*160insGTCG
ENST00000492756.5:c.546_547insGTCG ENSP00000422453.1:n.546_547insGTCG
ENST00000494410.5:c.*76_*77insGTCG ENSP00000423755.1:n.*76_*77insGTCG
ENST00000494799.5:n.625_626insGTCG
ENST00000612663.4:c.*65_*66insGTCG ENSP00000477997.2:n.*65_*66insGTCG
ENST00000615406.4:c.718_719insGTCG ENSP00000484575.1:p.Met240SerfsTer8
ENST00000626542.2:c.716_717insGTCG ENSP00000485876.1:p.His239GlnfsTer3
NM_000043.4:c.718_719insGTCG , LRG_134t1:c.718_719insGTCG NP_000034.1:p.Met240SerfsTer8
NM_152871.2:c.655_656insGTCG NP_690610.1:p.Met219SerfsTer8
NM_152872.2:c.*30_*31insGTCG NP_690611.1:n.*30_*31insGTCG
NR_028033.2:n.892_893insGTCG
NR_028034.2:n.754_755insGTCG
NR_028035.2:n.817_818insGTCG
NR_028036.2:n.955_956insGTCG
XM_006717819.2:c.799_800insGTCG XP_006717882.1:p.Met267SerfsTer8
XM_011539764.1:c.880_881insGTCG XP_011538066.1:p.Met294SerfsTer8
XM_011539765.1:c.817_818insGTCG XP_011538067.1:p.Met273SerfsTer8
XM_011539766.1:c.799_800insGTCG XP_011538068.1:p.Met267SerfsTer8
XM_011539767.1:c.763_764insGTCG XP_011538069.1:p.Met255SerfsTer8
XR_945732.1:n.786_787insGTCG
XR_945733.1:n.723_724insGTCG
NM_000043.5:c.718_719insGTCG NP_000034.1:p.Met240SerfsTer8
NM_001320619.1:c.*41_*42insGTCG NP_001307548.1:n.*41_*42insGTCG
NM_152871.3:c.655_656insGTCG NP_690610.1:p.Met219SerfsTer8
NM_152872.3:c.*30_*31insGTCG NP_690611.1:n.*30_*31insGTCG
NR_028033.3:n.864_865insGTCG
NR_028034.3:n.726_727insGTCG
NR_028035.3:n.789_790insGTCG
NR_028036.3:n.927_928insGTCG
NR_135313.1:n.844_845insGTCG
NR_135314.1:n.1027_1028insGTCG
NR_135315.1:n.780_781insGTCG
XM_006717819.3:c.799_800insGTCG XP_006717882.1:p.Met267SerfsTer8
XM_011539764.2:c.880_881insGTCG XP_011538066.1:p.Met294SerfsTer8
XM_011539765.2:c.817_818insGTCG XP_011538067.1:p.Met273SerfsTer8
XM_011539766.2:c.799_800insGTCG XP_011538068.1:p.Met267SerfsTer8
XM_011539767.3:c.763_764insGTCG XP_011538069.1:p.Met255SerfsTer8
XR_945732.3:n.786_787insGTCG
XR_945733.2:n.723_724insGTCG
NM_000043.6:c.718_719insGTCG MANE Select NP_000034.1:p.Met240SerfsTer8
NM_001320619.2:c.*41_*42insGTCG NP_001307548.1:n.*41_*42insGTCG
NM_152871.4:c.655_656insGTCG NP_690610.1:p.Met219SerfsTer8
NM_152872.4:c.*30_*31insGTCG NP_690611.1:n.*30_*31insGTCG
NR_028033.4:n.625_626insGTCG
NR_028034.4:n.487_488insGTCG
NR_028035.4:n.550_551insGTCG
NR_028036.4:n.688_689insGTCG
NR_135313.2:n.605_606insGTCG
NR_135314.2:n.884_885insGTCG
NR_135315.2:n.637_638insGTCG