Canonical Allele Identifier: CA2695229930

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909748_58909751dup , CM000682.2:g.58909748_58909751dup	GRCh38
NC_000020.10:g.57484803_57484806dup , CM000682.1:g.57484803_57484806dup	GRCh37
NC_000020.9:g.56918198_56918201dup	NCBI36
NG_016194.1:g.75009_75012dup
NG_016194.2:g.75009_75012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2667_2670dup	ENSP00000265621.6:p.Thr891ProfsTer?
ENST00000419558.7:c.*641_*644dup	ENSP00000416234.2:n.*641_*644dup
ENST00000453292.7:c.1382_1385dup	ENSP00000392000.2:n.1382_1385dup
ENST00000462499.6:c.564_567dup	ENSP00000499758.2:p.Thr190ProfsTer?
ENST00000464624.7:c.*625_*628dup	ENSP00000499607.2:n.*625_*628dup
ENST00000464788.6:c.606_609dup	ENSP00000499239.2:p.Thr204ProfsTer?
ENST00000467227.6:c.564_567dup	ENSP00000499681.2:p.Thr190ProfsTer?
ENST00000467321.6:c.606_609dup	ENSP00000499523.2:p.Thr204ProfsTer?
ENST00000468895.6:c.783_786dup	ENSP00000499551.2:p.Thr263ProfsTer?
ENST00000469431.6:c.606_609dup	ENSP00000499654.2:p.Thr204ProfsTer?
ENST00000470512.6:c.609_612dup	ENSP00000499552.2:p.Thr205ProfsTer?
ENST00000472183.6:c.606_609dup	ENSP00000499673.2:p.Thr204ProfsTer?
ENST00000475610.2:n.1289_1292dup
ENST00000476935.6:c.561_564dup	ENSP00000499409.2:p.Thr189ProfsTer?
ENST00000478585.6:c.564_567dup	ENSP00000499762.2:p.Thr190ProfsTer?
ENST00000480232.6:c.609_612dup	ENSP00000499545.2:p.Thr205ProfsTer?
ENST00000481039.6:c.564_567dup	ENSP00000499767.2:p.Thr190ProfsTer?
ENST00000482112.6:c.561_564dup	ENSP00000499794.2:p.Thr189ProfsTer?
ENST00000485673.6:c.564_567dup	ENSP00000499334.2:p.Thr190ProfsTer?
ENST00000488546.6:c.564_567dup	ENSP00000499332.2:p.Thr190ProfsTer?
ENST00000488652.6:c.606_609dup	ENSP00000499435.2:p.Thr204ProfsTer?
ENST00000492907.6:c.564_567dup	ENSP00000499443.2:p.Thr190ProfsTer?
ENST00000603546.2:c.606_609dup	ENSP00000474802.2:p.Thr204ProfsTer?
ENST00000604005.6:c.606_609dup	ENSP00000474219.2:p.Thr204ProfsTer?
ENST00000663479.2:c.609_612dup	ENSP00000499353.2:p.Thr205ProfsTer?
ENST00000667293.2:c.606_609dup	ENSP00000499293.2:p.Thr204ProfsTer?
ENST00000676826.2:c.2715_2718dup	ENSP00000504675.2:p.Thr907ProfsTer?
ENST00000682092.1:n.5067_5070dup
ENST00000682134.1:n.2709_2712dup
ENST00000682411.1:n.2878_2881dup
ENST00000682590.1:n.4970_4973dup
ENST00000682680.1:n.4984_4987dup
ENST00000682803.1:c.456_459dup	ENSP00000507069.1:p.Thr154ProfsTer?
ENST00000682829.1:n.3111_3114dup
ENST00000682917.1:n.1311_1314dup
ENST00000682986.1:n.5200_5203dup
ENST00000683015.1:c.1553_1556dup	ENSP00000506815.1:n.1553_1556dup
ENST00000683632.1:n.5313_5316dup
ENST00000683932.1:n.6559_6562dup
ENST00000684284.1:n.3161_3164dup
ENST00000684466.1:n.1422_1425dup
ENST00000684644.1:n.5103_5106dup
ENST00000684761.1:n.1276_1279dup
ENST00000306090.12:c.687_690dup	ENSP00000304472.12:p.Thr231ProfsTer?
ENST00000354359.12:c.786_789dup	ENSP00000346328.7:p.Thr264ProfsTer?
ENST00000371085.8:c.783_786dup MANE Select	ENSP00000360126.3:p.Thr263ProfsTer?
ENST00000371100.9:c.2712_2715dup MANE Plus Clinical	ENSP00000360141.3:p.Thr906ProfsTer?
ENST00000656419.1:c.312_315dup	ENSP00000499614.1:p.Thr106ProfsTer?
ENST00000657090.1:c.606_609dup	ENSP00000499380.1:p.Thr204ProfsTer?
ENST00000667293.1:c.654_657dup	ENSP00000499293.1:p.Thr220ProfsTer?
ENST00000265620.11:c.738_741dup	ENSP00000265620.7:p.Thr248ProfsTer?
ENST00000306090.11:c.94-19_94-16dup	ENSP00000304472.11:n.94-19_94-16dup
ENST00000313949.11:c.*686_*689dup	ENSP00000323571.7:n.*686_*689dup
ENST00000354359.11:c.786_789dup	ENSP00000346328.7:p.Thr264ProfsTer?
ENST00000371075.7:c.*689_*692dup MANE Plus Clinical	ENSP00000360115.3:n.*689_*692dup
ENST00000371085.7:c.783_786dup	ENSP00000360126.3:p.Thr263ProfsTer?
ENST00000371095.7:c.741_744dup	ENSP00000360136.3:p.Thr249ProfsTer?
ENST00000371100.8:c.2712_2715dup	ENSP00000360141.3:p.Thr906ProfsTer?
ENST00000371102.8:c.2670_2673dup	ENSP00000360143.4:p.Thr892ProfsTer?
ENST00000464624.6:n.2999_3002dup
ENST00000470512.5:n.857_860dup
ENST00000476196.5:n.1076_1079dup
ENST00000476935.5:n.772_775dup
ENST00000477931.5:n.898_901dup
ENST00000480232.5:n.802_805dup
ENST00000480975.5:n.782_785dup
ENST00000481039.5:n.700_703dup
ENST00000487862.5:n.1017_1020dup
ENST00000488546.5:n.642_645dup
ENST00000488652.5:n.873_876dup
ENST00000492907.5:n.734_737dup
ENST00000493958.5:n.506_509dup
ENST00000494081.5:n.338_341dup
ENST00000496934.5:n.2072_2075dup
NM_000516.4:c.783_786dup	NP_000507.1:p.Thr263ProfsTer?
NM_000516.5:c.783_786dup	NP_000507.1:p.Thr263ProfsTer?
NM_001077488.2:c.786_789dup	NP_001070956.1:p.Thr264ProfsTer?
NM_001077488.3:c.786_789dup	NP_001070956.1:p.Thr264ProfsTer?
NM_001077489.2:c.738_741dup	NP_001070957.1:p.Thr248ProfsTer?
NM_001077489.3:c.738_741dup	NP_001070957.1:p.Thr248ProfsTer?
NM_001077490.1:c.*644_*647dup	NP_001070958.1:n.*644_*647dup
NM_001077490.2:c.*644_*647dup	NP_001070958.1:n.*644_*647dup
NM_001309840.1:c.606_609dup	NP_001296769.1:p.Thr204ProfsTer?
NM_001309861.1:c.606_609dup	NP_001296790.1:p.Thr204ProfsTer?
NM_016592.2:c.*689_*692dup	NP_057676.1:n.*689_*692dup
NM_016592.3:c.*689_*692dup	NP_057676.1:n.*689_*692dup
NM_080425.2:c.2712_2715dup	NP_536350.2:p.Thr906ProfsTer?
NM_080425.3:c.2712_2715dup	NP_536350.2:p.Thr906ProfsTer?
NM_080426.2:c.741_744dup	NP_536351.1:p.Thr249ProfsTer?
NM_080426.3:c.741_744dup	NP_536351.1:p.Thr249ProfsTer?
NR_003259.1:c.-4294966423_-4294966420dup
XM_017027812.2:c.2715_2718dup	XP_016883301.1:p.Thr907ProfsTer?
XM_017027813.2:c.2670_2673dup	XP_016883302.1:p.Thr892ProfsTer?
XM_017027814.2:c.2667_2670dup	XP_016883303.1:p.Thr891ProfsTer?
XM_017027815.1:c.642_645dup	XP_016883304.1:p.Thr216ProfsTer?
XM_017027816.1:c.561_564dup	XP_016883305.1:p.Thr189ProfsTer?
XM_017027817.1:c.561_564dup	XP_016883306.1:p.Thr189ProfsTer?
XM_017027818.2:c.561_564dup	XP_016883307.1:p.Thr189ProfsTer?
XM_017027819.1:c.561_564dup	XP_016883308.1:p.Thr189ProfsTer?
XM_017027820.1:c.561_564dup	XP_016883309.1:p.Thr189ProfsTer?
XM_024451872.1:c.687_690dup	XP_024307640.1:p.Thr231ProfsTer?
XM_024451873.1:c.606_609dup	XP_024307641.1:p.Thr204ProfsTer?
XM_024451874.1:c.606_609dup	XP_024307642.1:p.Thr204ProfsTer?
XM_024451875.1:c.606_609dup	XP_024307643.1:p.Thr204ProfsTer?
XR_002958471.1:n.1490_1493dup
NM_000516.6:c.783_786dup	NP_000507.1:p.Thr263ProfsTer?
NM_001077488.4:c.786_789dup	NP_001070956.1:p.Thr264ProfsTer?
NM_001077489.4:c.738_741dup	NP_001070957.1:p.Thr248ProfsTer?
NM_001309840.2:c.606_609dup	NP_001296769.1:p.Thr204ProfsTer?
NM_001309861.2:c.606_609dup	NP_001296790.1:p.Thr204ProfsTer?
NM_016592.4:c.*689_*692dup	NP_057676.1:n.*689_*692dup
NM_080426.4:c.741_744dup	NP_536351.1:p.Thr249ProfsTer?
NM_000516.7:c.783_786dup MANE Select	NP_000507.1:p.Thr263ProfsTer?
NM_001077488.5:c.786_789dup	NP_001070956.1:p.Thr264ProfsTer?
NM_001077490.3:c.*644_*647dup	NP_001070958.1:n.*644_*647dup
NM_016592.5:c.*689_*692dup MANE Plus Clinical	NP_057676.1:n.*689_*692dup
NM_080425.4:c.2712_2715dup MANE Plus Clinical	NP_536350.2:p.Thr906ProfsTer?