Canonical Allele Identifier: CA2653524901
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58900085-ATGGGGCCCCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58900086_58900095del , CM000682.2:g.58900086_58900095del GRCh38
NC_000020.10:g.57475141_57475150del , CM000682.1:g.57475141_57475150del GRCh37
NC_000020.9:g.56908536_56908545del NCBI36
NG_016194.1:g.65347_65356del
NG_016194.2:g.65347_65356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3445_2142-3436del ENSP00000265621.6:n.2142-3445_2142-3436del
ENST00000419558.7:c.*116-3445_*116-3436del ENSP00000416234.2:n.*116-3445_*116-3436del
ENST00000423897.7:c.2324_2333del ENSP00000412356.2:n.2324_2333del
ENST00000453292.7:c.854-3442_854-3433del ENSP00000392000.2:n.854-3442_854-3433del
ENST00000462499.6:c.36-3442_36-3433del ENSP00000499758.2:n.36-3442_36-3433del
ENST00000464624.7:c.*99+1101_*99+1110del ENSP00000499607.2:n.*99+1101_*99+1110del
ENST00000464788.6:c.80+1101_80+1110del ENSP00000499239.2:n.80+1101_80+1110del
ENST00000467227.6:c.36-3442_36-3433del ENSP00000499681.2:n.36-3442_36-3433del
ENST00000467321.6:c.80+1101_80+1110del ENSP00000499523.2:n.80+1101_80+1110del
ENST00000468895.6:c.257+1101_257+1110del ENSP00000499551.2:n.257+1101_257+1110del
ENST00000469431.6:c.80+1101_80+1110del ENSP00000499654.2:n.80+1101_80+1110del
ENST00000470512.6:c.80+1101_80+1110del ENSP00000499552.2:n.80+1101_80+1110del
ENST00000472183.6:c.80+1101_80+1110del ENSP00000499673.2:n.80+1101_80+1110del
ENST00000476935.6:c.36-3445_36-3436del ENSP00000499409.2:n.36-3445_36-3436del
ENST00000478585.6:c.36-3442_36-3433del ENSP00000499762.2:n.36-3442_36-3433del
ENST00000480232.6:c.80+1101_80+1110del ENSP00000499545.2:n.80+1101_80+1110del
ENST00000481039.6:c.36-3442_36-3433del ENSP00000499767.2:n.36-3442_36-3433del
ENST00000482112.6:c.36-3445_36-3436del ENSP00000499794.2:n.36-3445_36-3436del
ENST00000483387.2:n.893_902del
ENST00000485673.6:c.36-3442_36-3433del ENSP00000499334.2:n.36-3442_36-3433del
ENST00000488546.6:c.36-3442_36-3433del ENSP00000499332.2:n.36-3442_36-3433del
ENST00000488652.6:c.80+1101_80+1110del ENSP00000499435.2:n.80+1101_80+1110del
ENST00000492907.6:c.36-3442_36-3433del ENSP00000499443.2:n.36-3442_36-3433del
ENST00000603546.2:c.80+1101_80+1110del ENSP00000474802.2:n.80+1101_80+1110del
ENST00000604005.6:c.80+1101_80+1110del ENSP00000474219.2:n.80+1101_80+1110del
ENST00000663479.2:c.80+1101_80+1110del ENSP00000499353.2:n.80+1101_80+1110del
ENST00000667293.2:c.80+1101_80+1110del ENSP00000499293.2:n.80+1101_80+1110del
ENST00000676826.2:c.2186+1101_2186+1110del ENSP00000504675.2:n.2186+1101_2186+1110del
ENST00000682134.1:n.2183+1101_2183+1110del
ENST00000682803.1:c.-71+924_-71+933del ENSP00000507069.1:n.-71+924_-71+933del
ENST00000682829.1:n.2586-3445_2586-3436del
ENST00000683015.1:c.1027+1101_1027+1110del ENSP00000506815.1:n.1027+1101_1027+1110del
ENST00000684284.1:n.2635+1101_2635+1110del
ENST00000306090.12:c.161+1101_161+1110del ENSP00000304472.12:n.161+1101_161+1110del
ENST00000338783.7:c.350_359del ENSP00000345971.7:n.350_359del
ENST00000349036.8:c.2142-3445_2142-3436del ENSP00000265621.5:n.2142-3445_2142-3436del
ENST00000354359.12:c.257+1101_257+1110del ENSP00000346328.7:n.257+1101_257+1110del
ENST00000371085.8:c.257+1101_257+1110del MANE Select ENSP00000360126.3:n.257+1101_257+1110del
ENST00000371100.9:c.2186+1101_2186+1110del MANE Plus Clinical ENSP00000360141.3:n.2186+1101_2186+1110del
ENST00000419558.6:c.*116-3445_*116-3436del ENSP00000416234.2:n.*116-3445_*116-3436del
ENST00000423897.6:c.*131_*140del ENSP00000412356.2:n.*131_*140del
ENST00000453292.6:c.*116-3442_*116-3433del ENSP00000392000.2:n.*116-3442_*116-3433del
ENST00000461152.6:c.983-3442_983-3433del ENSP00000499274.1:n.983-3442_983-3433del
ENST00000481768.6:c.*223_*232del ENSP00000499644.2:n.*223_*232del
ENST00000490374.6:n.422+56_422+65del
ENST00000657090.1:c.80+1101_80+1110del ENSP00000499380.1:n.80+1101_80+1110del
ENST00000663479.1:c.80+1101_80+1110del ENSP00000499353.1:n.80+1101_80+1110del
ENST00000667293.1:c.128+1101_128+1110del ENSP00000499293.1:n.128+1101_128+1110del
ENST00000676826.1:c.2186+1101_2186+1110del ENSP00000504675.1:n.2186+1101_2186+1110del
ENST00000265620.11:c.213-3445_213-3436del ENSP00000265620.7:n.213-3445_213-3436del
ENST00000306090.11:c.93+8267_93+8276del ENSP00000304472.11:n.93+8267_93+8276del
ENST00000313949.11:c.*160+1101_*160+1110del ENSP00000323571.7:n.*160+1101_*160+1110del
ENST00000338783.6:c.317_326del ENSP00000345971.6:n.317_326del
ENST00000349036.7:c.305+1101_305+1110del ENSP00000265621.4:n.305+1101_305+1110del
ENST00000354359.11:c.257+1101_257+1110del ENSP00000346328.7:n.257+1101_257+1110del
ENST00000371075.7:c.*160+1101_*160+1110del MANE Plus Clinical ENSP00000360115.3:n.*160+1101_*160+1110del
ENST00000371081.5:c.*131_*140del ENSP00000360122.1:n.*131_*140del
ENST00000371085.7:c.257+1101_257+1110del ENSP00000360126.3:n.257+1101_257+1110del
ENST00000371095.7:c.213-3442_213-3433del ENSP00000360136.3:n.213-3442_213-3433del
ENST00000371098.6:c.*298_*307del ENSP00000360139.2:n.*298_*307del
ENST00000371100.8:c.2186+1101_2186+1110del ENSP00000360141.3:n.2186+1101_2186+1110del
ENST00000371102.8:c.2142-3442_2142-3433del ENSP00000360143.4:n.2142-3442_2142-3433del
ENST00000419558.5:c.457-3445_457-3436del
ENST00000423897.5:c.412_421del
ENST00000450130.5:c.301-3445_301-3436del
ENST00000453292.5:c.617-3442_617-3433del ENSP00000392000.1:n.617-3442_617-3433del
ENST00000461152.5:n.221-3442_221-3433del
ENST00000462499.5:n.332-3442_332-3433del
ENST00000464624.6:n.2473+1101_2473+1110del
ENST00000464788.5:n.185+1101_185+1110del
ENST00000464960.5:n.662_671del
ENST00000467227.5:n.196-3442_196-3433del
ENST00000467321.5:n.272+1101_272+1110del
ENST00000468895.5:n.124-3442_124-3433del
ENST00000469431.5:n.374+1101_374+1110del
ENST00000470512.5:n.328+1101_328+1110del
ENST00000472183.5:n.509+1101_509+1110del
ENST00000476935.5:n.247-3445_247-3436del
ENST00000477931.5:n.372+1101_372+1110del
ENST00000478585.5:n.268-3442_268-3433del
ENST00000480232.5:n.273+1101_273+1110del
ENST00000480975.5:n.257-3445_257-3436del
ENST00000481039.5:n.174+1101_174+1110del
ENST00000481768.5:n.1579_1588del
ENST00000482112.5:n.332-3445_332-3436del
ENST00000483387.1:n.567+1101_567+1110del
ENST00000484504.5:n.338_347del
ENST00000485673.5:n.500-3442_500-3433del
ENST00000487862.5:n.489-3442_489-3433del
ENST00000488546.5:n.114-3442_114-3433del
ENST00000488652.5:n.347+1101_347+1110del
ENST00000490374.5:n.372+1101_372+1110del
ENST00000491348.5:n.744_753del
ENST00000492907.5:n.206-3442_206-3433del
ENST00000493744.5:n.488_497del
ENST00000496934.5:n.1546+1101_1546+1110del
ENST00000603546.1:c.80+1101_80+1110del ENSP00000474802.1:n.80+1101_80+1110del
ENST00000604005.5:c.80+1101_80+1110del ENSP00000474219.1:n.80+1101_80+1110del
NM_000516.4:c.257+1101_257+1110del NP_000507.1:n.257+1101_257+1110del
NM_000516.5:c.257+1101_257+1110del NP_000507.1:n.257+1101_257+1110del
NM_001077488.2:c.257+1101_257+1110del NP_001070956.1:n.257+1101_257+1110del
NM_001077488.3:c.257+1101_257+1110del NP_001070956.1:n.257+1101_257+1110del
NM_001077489.2:c.213-3445_213-3436del NP_001070957.1:n.213-3445_213-3436del
NM_001077489.3:c.213-3445_213-3436del NP_001070957.1:n.213-3445_213-3436del
NM_001077490.1:c.*118+1101_*118+1110del NP_001070958.1:n.*118+1101_*118+1110del
NM_001077490.2:c.*118+1101_*118+1110del NP_001070958.1:n.*118+1101_*118+1110del
NM_001309840.1:c.80+1101_80+1110del NP_001296769.1:n.80+1101_80+1110del
NM_001309842.1:c.*131_*140del NP_001296771.1:n.*131_*140del
NM_001309861.1:c.80+1101_80+1110del NP_001296790.1:n.80+1101_80+1110del
NM_001309883.1:c.*414_*423del NP_001296812.1:n.*414_*423del
NM_016592.2:c.*160+1101_*160+1110del NP_057676.1:n.*160+1101_*160+1110del
NM_016592.3:c.*160+1101_*160+1110del NP_057676.1:n.*160+1101_*160+1110del
NM_080425.2:c.2186+1101_2186+1110del NP_536350.2:n.2186+1101_2186+1110del
NM_080425.3:c.2186+1101_2186+1110del NP_536350.2:n.2186+1101_2186+1110del
NM_080426.2:c.213-3442_213-3433del NP_536351.1:n.213-3442_213-3433del
NM_080426.3:c.213-3442_213-3433del NP_536351.1:n.213-3442_213-3433del
NR_003259.1:c.-4294966949+1101_-4294966949+1110del
NR_132272.1:n.302_311del
NR_132273.1:n.662_671del
XM_017027812.2:c.2186+1101_2186+1110del XP_016883301.1:n.2186+1101_2186+1110del
XM_017027813.2:c.2142-3442_2142-3433del XP_016883302.1:n.2142-3442_2142-3433del
XM_017027814.2:c.2142-3445_2142-3436del XP_016883303.1:n.2142-3445_2142-3436del
XM_017027815.1:c.117-3445_117-3436del XP_016883304.1:n.117-3445_117-3436del
XM_017027816.1:c.35+56_35+65del XP_016883305.1:n.35+56_35+65del
XM_017027817.1:c.36-3445_36-3436del XP_016883306.1:n.36-3445_36-3436del
XM_017027818.2:c.36-3445_36-3436del XP_016883307.1:n.36-3445_36-3436del
XM_017027819.1:c.36-3445_36-3436del XP_016883308.1:n.36-3445_36-3436del
XM_017027820.1:c.35+56_35+65del XP_016883309.1:n.35+56_35+65del
XM_017027821.1:c.*160+1101_*160+1110del XP_016883310.1:n.*160+1101_*160+1110del
XM_017027822.1:c.*116-3445_*116-3436del XP_016883311.1:n.*116-3445_*116-3436del
XM_024451872.1:c.161+1101_161+1110del XP_024307640.1:n.161+1101_161+1110del
XM_024451873.1:c.80+1101_80+1110del XP_024307641.1:n.80+1101_80+1110del
XM_024451874.1:c.80+1101_80+1110del XP_024307642.1:n.80+1101_80+1110del
XM_024451875.1:c.80+1101_80+1110del XP_024307643.1:n.80+1101_80+1110del
XR_002958471.1:n.964+56_964+65del
NM_000516.6:c.257+1101_257+1110del NP_000507.1:n.257+1101_257+1110del
NM_001077488.4:c.257+1101_257+1110del NP_001070956.1:n.257+1101_257+1110del
NM_001077489.4:c.213-3445_213-3436del NP_001070957.1:n.213-3445_213-3436del
NM_001309840.2:c.80+1101_80+1110del NP_001296769.1:n.80+1101_80+1110del
NM_001309842.2:c.*131_*140del NP_001296771.1:n.*131_*140del
NM_001309861.2:c.80+1101_80+1110del NP_001296790.1:n.80+1101_80+1110del
NM_016592.4:c.*160+1101_*160+1110del NP_057676.1:n.*160+1101_*160+1110del
NM_080426.4:c.213-3442_213-3433del NP_536351.1:n.213-3442_213-3433del
NR_132272.2:n.303_312del
NM_000516.7:c.257+1101_257+1110del MANE Select NP_000507.1:n.257+1101_257+1110del
NM_001077488.5:c.257+1101_257+1110del NP_001070956.1:n.257+1101_257+1110del
NM_001077490.3:c.*118+1101_*118+1110del NP_001070958.1:n.*118+1101_*118+1110del
NM_016592.5:c.*160+1101_*160+1110del MANE Plus Clinical NP_057676.1:n.*160+1101_*160+1110del
NM_080425.4:c.2186+1101_2186+1110del MANE Plus Clinical NP_536350.2:n.2186+1101_2186+1110del
Search 100 bp 5'
Search 100 bp 3'