Canonical Allele Identifier: CA2610079546

Gene: FAS

Linked Data

• gnomAD v4: 10-89014160-A-ATGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014161_89014164dup , CM000672.2:g.89014161_89014164dup	GRCh38
NC_000010.10:g.90773918_90773921dup , CM000672.1:g.90773918_90773921dup	GRCh37
NC_000010.9:g.90763898_90763901dup	NCBI36
NG_009089.2:g.28631_28634dup , LRG_134:g.28631_28634dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1028_1031dup
ENST00000355740.8:c.*42_*45dup	ENSP00000347979.3:n.*42_*45dup
ENST00000357339.7:c.656_659dup	ENSP00000349896.2:p.Leu221AspfsTer6
ENST00000371857.8:n.2264_2267dup
ENST00000460510.6:c.2_5dup	ENSP00000512812.1:p.Leu3AspfsTer6
ENST00000466081.6:n.2368_2371dup
ENST00000477270.6:c.764_767dup	ENSP00000512813.1:p.Leu257AspfsTer6
ENST00000479522.6:c.*148_*151dup	ENSP00000424113.1:n.*148_*151dup
ENST00000484444.6:c.*160_*163dup	ENSP00000420975.1:n.*160_*163dup
ENST00000488877.6:c.610_613dup	ENSP00000425159.1:n.610_613dup
ENST00000492756.7:c.*148_*151dup	ENSP00000422453.1:n.*148_*151dup
ENST00000494799.6:c.2_5dup	ENSP00000512834.1:p.Leu3AspfsTer6
ENST00000562983.3:c.2_5dup	ENSP00000512845.1:p.Leu3AspfsTer6
ENST00000612663.6:c.*121_*124dup	ENSP00000477997.3:n.*121_*124dup
ENST00000640140.2:n.864_867dup
ENST00000640250.2:n.218_221dup
ENST00000640681.2:n.823_826dup
ENST00000696723.1:n.4352_4355dup
ENST00000696741.1:n.2357_2360dup
ENST00000696742.1:n.2084_2087dup
ENST00000696743.1:n.3487_3490dup
ENST00000696744.1:n.758_761dup
ENST00000696767.1:n.1053_1056dup
ENST00000696768.1:c.*42_*45dup	ENSP00000512859.1:n.*42_*45dup
ENST00000696769.1:n.2408_2411dup
ENST00000696771.1:c.2_5dup	ENSP00000512860.1:p.Leu3AspfsTer6
ENST00000696772.1:n.2322_2325dup
ENST00000696773.1:n.2061_2064dup
ENST00000696774.1:n.5829_5832dup
ENST00000696776.1:c.812_815dup	ENSP00000512861.1:p.Leu273AspfsTer6
ENST00000696777.1:n.2127_2130dup
ENST00000696778.1:n.1155_1158dup
ENST00000696779.1:c.326_329dup	ENSP00000512862.1:p.Leu111AspfsTer6
ENST00000696780.1:c.749_752dup	ENSP00000512863.1:p.Leu252AspfsTer6
ENST00000696781.1:c.464_467dup	ENSP00000512864.1:p.Leu157AspfsTer6
ENST00000696782.1:c.*121_*124dup	ENSP00000512865.1:n.*121_*124dup
ENST00000696783.1:n.2587_2590dup
ENST00000696992.1:n.1836_1839dup
ENST00000696995.1:n.4248_4251dup
ENST00000696996.1:n.2161_2164dup
ENST00000696997.1:c.*349_*352dup	ENSP00000513028.1:n.*349_*352dup
ENST00000696998.1:n.1973_1976dup
ENST00000696999.1:c.2_5dup	ENSP00000513029.1:p.Leu3AspfsTer6
ENST00000697035.1:c.*52_*55dup	ENSP00000513059.1:n.*52_*55dup
ENST00000697036.1:c.*135_*138dup	ENSP00000513060.1:n.*135_*138dup
ENST00000697037.1:n.754_757dup
ENST00000697093.1:n.2955_2958dup
ENST00000697094.1:n.3302_3305dup
ENST00000697095.1:c.*1920_*1923dup	ENSP00000513104.1:n.*1920_*1923dup
ENST00000697096.1:n.1852_1855dup
ENST00000697097.1:c.2_5dup	ENSP00000513105.1:p.Leu3AspfsTer6
ENST00000562983.2:n.905_908dup
ENST00000690268.1:c.800_803dup	ENSP00000509810.1:p.Leu269AspfsTer6
ENST00000355740.7:c.*45_*48dup	ENSP00000347979.3:n.*45_*48dup
ENST00000612663.5:c.*121_*124dup	ENSP00000477997.3:n.*121_*124dup
ENST00000640140.1:n.891_894dup
ENST00000640250.1:n.218_221dup
ENST00000640681.1:n.840_843dup
ENST00000652046.1:c.719_722dup MANE Select	ENSP00000498466.1:p.Leu242AspfsTer6
ENST00000313771.9:n.1028_1031dup
ENST00000352159.8:c.*36_*39dup	ENSP00000345601.4:n.*36_*39dup
ENST00000355279.2:c.694_697dup	ENSP00000347426.2:n.694_697dup
ENST00000355740.6:c.719_722dup	ENSP00000347979.2:p.Leu242AspfsTer6
ENST00000357339.6:c.656_659dup	ENSP00000349896.2:p.Leu221AspfsTer6
ENST00000479522.5:c.*148_*151dup	ENSP00000424113.1:n.*148_*151dup
ENST00000484444.5:c.*160_*163dup	ENSP00000420975.1:n.*160_*163dup
ENST00000488877.5:c.*160_*163dup	ENSP00000425159.1:n.*160_*163dup
ENST00000492756.5:c.547_550dup	ENSP00000422453.1:n.547_550dup
ENST00000494410.5:c.*77_*80dup	ENSP00000423755.1:n.*77_*80dup
ENST00000494799.5:n.626_629dup
ENST00000612663.4:c.*66_*69dup	ENSP00000477997.2:n.*66_*69dup
ENST00000615406.4:c.719_722dup	ENSP00000484575.1:p.Leu242AspfsTer6
ENST00000626542.2:c.717_720dup	ENSP00000485876.1:p.Thr241Ter
NM_000043.4:c.719_722dup , LRG_134t1:c.719_722dup	NP_000034.1:p.Leu242AspfsTer6
NM_152871.2:c.656_659dup	NP_690610.1:p.Leu221AspfsTer6
NM_152872.2:c.*31_*34dup	NP_690611.1:n.*31_*34dup
NR_028033.2:n.893_896dup
NR_028034.2:n.755_758dup
NR_028035.2:n.818_821dup
NR_028036.2:n.956_959dup
XM_006717819.2:c.800_803dup	XP_006717882.1:p.Leu269AspfsTer6
XM_011539764.1:c.881_884dup	XP_011538066.1:p.Leu296AspfsTer6
XM_011539765.1:c.818_821dup	XP_011538067.1:p.Leu275AspfsTer6
XM_011539766.1:c.800_803dup	XP_011538068.1:p.Leu269AspfsTer6
XM_011539767.1:c.764_767dup	XP_011538069.1:p.Leu257AspfsTer6
XR_945732.1:n.787_790dup
XR_945733.1:n.724_727dup
NM_000043.5:c.719_722dup	NP_000034.1:p.Leu242AspfsTer6
NM_001320619.1:c.*42_*45dup	NP_001307548.1:n.*42_*45dup
NM_152871.3:c.656_659dup	NP_690610.1:p.Leu221AspfsTer6
NM_152872.3:c.*31_*34dup	NP_690611.1:n.*31_*34dup
NR_028033.3:n.865_868dup
NR_028034.3:n.727_730dup
NR_028035.3:n.790_793dup
NR_028036.3:n.928_931dup
NR_135313.1:n.845_848dup
NR_135314.1:n.1028_1031dup
NR_135315.1:n.781_784dup
XM_006717819.3:c.800_803dup	XP_006717882.1:p.Leu269AspfsTer6
XM_011539764.2:c.881_884dup	XP_011538066.1:p.Leu296AspfsTer6
XM_011539765.2:c.818_821dup	XP_011538067.1:p.Leu275AspfsTer6
XM_011539766.2:c.800_803dup	XP_011538068.1:p.Leu269AspfsTer6
XM_011539767.3:c.764_767dup	XP_011538069.1:p.Leu257AspfsTer6
XR_945732.3:n.787_790dup
XR_945733.2:n.724_727dup
NM_000043.6:c.719_722dup MANE Select	NP_000034.1:p.Leu242AspfsTer6
NM_001320619.2:c.*42_*45dup	NP_001307548.1:n.*42_*45dup
NM_152871.4:c.656_659dup	NP_690610.1:p.Leu221AspfsTer6
NM_152872.4:c.*31_*34dup	NP_690611.1:n.*31_*34dup
NR_028033.4:n.626_629dup
NR_028034.4:n.488_491dup
NR_028035.4:n.551_554dup
NR_028036.4:n.689_692dup
NR_135313.2:n.606_609dup
NR_135314.2:n.885_888dup
NR_135315.2:n.638_641dup