Canonical Allele Identifier: CA2653524719
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58899924-ATGTT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58899929_58899932del , CM000682.2:g.58899929_58899932del GRCh38
NC_000020.10:g.57474984_57474987del , CM000682.1:g.57474984_57474987del GRCh37
NC_000020.9:g.56908379_56908382del NCBI36
NG_016194.1:g.65190_65193del
NG_016194.2:g.65190_65193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3602_2142-3599del ENSP00000265621.6:n.2142-3602_2142-3599del
ENST00000419558.7:c.*116-3602_*116-3599del ENSP00000416234.2:n.*116-3602_*116-3599del
ENST00000423897.7:c.2187-20_2187-17del ENSP00000412356.2:n.2187-20_2187-17del
ENST00000453292.7:c.854-3599_854-3596del ENSP00000392000.2:n.854-3599_854-3596del
ENST00000462499.6:c.36-3599_36-3596del ENSP00000499758.2:n.36-3599_36-3596del
ENST00000464624.7:c.*99+944_*99+947del ENSP00000499607.2:n.*99+944_*99+947del
ENST00000464788.6:c.80+944_80+947del ENSP00000499239.2:n.80+944_80+947del
ENST00000467227.6:c.36-3599_36-3596del ENSP00000499681.2:n.36-3599_36-3596del
ENST00000467321.6:c.80+944_80+947del ENSP00000499523.2:n.80+944_80+947del
ENST00000468895.6:c.257+944_257+947del ENSP00000499551.2:n.257+944_257+947del
ENST00000469431.6:c.80+944_80+947del ENSP00000499654.2:n.80+944_80+947del
ENST00000470512.6:c.80+944_80+947del ENSP00000499552.2:n.80+944_80+947del
ENST00000472183.6:c.80+944_80+947del ENSP00000499673.2:n.80+944_80+947del
ENST00000476935.6:c.36-3602_36-3599del ENSP00000499409.2:n.36-3602_36-3599del
ENST00000478585.6:c.36-3599_36-3596del ENSP00000499762.2:n.36-3599_36-3596del
ENST00000480232.6:c.80+944_80+947del ENSP00000499545.2:n.80+944_80+947del
ENST00000481039.6:c.36-3599_36-3596del ENSP00000499767.2:n.36-3599_36-3596del
ENST00000482112.6:c.36-3602_36-3599del ENSP00000499794.2:n.36-3602_36-3599del
ENST00000483387.2:n.756-20_756-17del
ENST00000485673.6:c.36-3599_36-3596del ENSP00000499334.2:n.36-3599_36-3596del
ENST00000488546.6:c.36-3599_36-3596del ENSP00000499332.2:n.36-3599_36-3596del
ENST00000488652.6:c.80+944_80+947del ENSP00000499435.2:n.80+944_80+947del
ENST00000492907.6:c.36-3599_36-3596del ENSP00000499443.2:n.36-3599_36-3596del
ENST00000603546.2:c.80+944_80+947del ENSP00000474802.2:n.80+944_80+947del
ENST00000604005.6:c.80+944_80+947del ENSP00000474219.2:n.80+944_80+947del
ENST00000663479.2:c.80+944_80+947del ENSP00000499353.2:n.80+944_80+947del
ENST00000667293.2:c.80+944_80+947del ENSP00000499293.2:n.80+944_80+947del
ENST00000676826.2:c.2186+944_2186+947del ENSP00000504675.2:n.2186+944_2186+947del
ENST00000682134.1:n.2183+944_2183+947del
ENST00000682803.1:c.-71+767_-71+770del ENSP00000507069.1:n.-71+767_-71+770del
ENST00000682829.1:n.2586-3602_2586-3599del
ENST00000683015.1:c.1027+944_1027+947del ENSP00000506815.1:n.1027+944_1027+947del
ENST00000684284.1:n.2635+944_2635+947del
ENST00000306090.12:c.161+944_161+947del ENSP00000304472.12:n.161+944_161+947del
ENST00000338783.7:c.213-20_213-17del ENSP00000345971.7:n.213-20_213-17del
ENST00000349036.8:c.2142-3602_2142-3599del ENSP00000265621.5:n.2142-3602_2142-3599del
ENST00000354359.12:c.257+944_257+947del ENSP00000346328.7:n.257+944_257+947del
ENST00000371085.8:c.257+944_257+947del MANE Select ENSP00000360126.3:n.257+944_257+947del
ENST00000371100.9:c.2186+944_2186+947del MANE Plus Clinical ENSP00000360141.3:n.2186+944_2186+947del
ENST00000419558.6:c.*116-3602_*116-3599del ENSP00000416234.2:n.*116-3602_*116-3599del
ENST00000423897.6:c.2187-20_2187-17del ENSP00000412356.2:n.2187-20_2187-17del
ENST00000453292.6:c.*116-3599_*116-3596del ENSP00000392000.2:n.*116-3599_*116-3596del
ENST00000461152.6:c.983-3599_983-3596del ENSP00000499274.1:n.983-3599_983-3596del
ENST00000481768.6:c.*86-20_*86-17del ENSP00000499644.2:n.*86-20_*86-17del
ENST00000490374.6:n.341-20_341-17del
ENST00000657090.1:c.80+944_80+947del ENSP00000499380.1:n.80+944_80+947del
ENST00000663479.1:c.80+944_80+947del ENSP00000499353.1:n.80+944_80+947del
ENST00000667293.1:c.128+944_128+947del ENSP00000499293.1:n.128+944_128+947del
ENST00000676826.1:c.2186+944_2186+947del ENSP00000504675.1:n.2186+944_2186+947del
ENST00000265620.11:c.213-3602_213-3599del ENSP00000265620.7:n.213-3602_213-3599del
ENST00000306090.11:c.93+8110_93+8113del ENSP00000304472.11:n.93+8110_93+8113del
ENST00000313949.11:c.*160+944_*160+947del ENSP00000323571.7:n.*160+944_*160+947del
ENST00000338783.6:c.180-20_180-17del ENSP00000345971.6:n.180-20_180-17del
ENST00000349036.7:c.305+944_305+947del ENSP00000265621.4:n.305+944_305+947del
ENST00000354359.11:c.257+944_257+947del ENSP00000346328.7:n.257+944_257+947del
ENST00000371075.7:c.*160+944_*160+947del MANE Plus Clinical ENSP00000360115.3:n.*160+944_*160+947del
ENST00000371081.5:c.258-20_258-17del ENSP00000360122.1:n.258-20_258-17del
ENST00000371085.7:c.257+944_257+947del ENSP00000360126.3:n.257+944_257+947del
ENST00000371095.7:c.213-3599_213-3596del ENSP00000360136.3:n.213-3599_213-3596del
ENST00000371098.6:c.*161-20_*161-17del ENSP00000360139.2:n.*161-20_*161-17del
ENST00000371100.8:c.2186+944_2186+947del ENSP00000360141.3:n.2186+944_2186+947del
ENST00000371102.8:c.2142-3599_2142-3596del ENSP00000360143.4:n.2142-3599_2142-3596del
ENST00000419558.5:c.457-3602_457-3599del
ENST00000423897.5:c.275-20_275-17del
ENST00000450130.5:c.301-3602_301-3599del
ENST00000453292.5:c.617-3599_617-3596del ENSP00000392000.1:n.617-3599_617-3596del
ENST00000461152.5:n.221-3599_221-3596del
ENST00000462499.5:n.332-3599_332-3596del
ENST00000464624.6:n.2473+944_2473+947del
ENST00000464788.5:n.185+944_185+947del
ENST00000464960.5:n.525-20_525-17del
ENST00000467227.5:n.196-3599_196-3596del
ENST00000467321.5:n.272+944_272+947del
ENST00000468895.5:n.124-3599_124-3596del
ENST00000469431.5:n.374+944_374+947del
ENST00000470512.5:n.328+944_328+947del
ENST00000472183.5:n.509+944_509+947del
ENST00000476935.5:n.247-3602_247-3599del
ENST00000477931.5:n.372+944_372+947del
ENST00000478585.5:n.268-3599_268-3596del
ENST00000480232.5:n.273+944_273+947del
ENST00000480975.5:n.257-3602_257-3599del
ENST00000481039.5:n.174+944_174+947del
ENST00000481768.5:n.1442-20_1442-17del
ENST00000482112.5:n.332-3602_332-3599del
ENST00000483387.1:n.567+944_567+947del
ENST00000484504.5:n.201-20_201-17del
ENST00000485673.5:n.500-3599_500-3596del
ENST00000487862.5:n.489-3599_489-3596del
ENST00000488546.5:n.114-3599_114-3596del
ENST00000488652.5:n.347+944_347+947del
ENST00000490374.5:n.372+944_372+947del
ENST00000491348.5:n.607-20_607-17del
ENST00000492907.5:n.206-3599_206-3596del
ENST00000493744.5:n.351-20_351-17del
ENST00000496934.5:n.1546+944_1546+947del
ENST00000603546.1:c.80+944_80+947del ENSP00000474802.1:n.80+944_80+947del
ENST00000604005.5:c.80+944_80+947del ENSP00000474219.1:n.80+944_80+947del
NM_000516.4:c.257+944_257+947del NP_000507.1:n.257+944_257+947del
NM_000516.5:c.257+944_257+947del NP_000507.1:n.257+944_257+947del
NM_001077488.2:c.257+944_257+947del NP_001070956.1:n.257+944_257+947del
NM_001077488.3:c.257+944_257+947del NP_001070956.1:n.257+944_257+947del
NM_001077489.2:c.213-3602_213-3599del NP_001070957.1:n.213-3602_213-3599del
NM_001077489.3:c.213-3602_213-3599del NP_001070957.1:n.213-3602_213-3599del
NM_001077490.1:c.*118+944_*118+947del NP_001070958.1:n.*118+944_*118+947del
NM_001077490.2:c.*118+944_*118+947del NP_001070958.1:n.*118+944_*118+947del
NM_001309840.1:c.80+944_80+947del NP_001296769.1:n.80+944_80+947del
NM_001309842.1:c.258-20_258-17del NP_001296771.1:n.258-20_258-17del
NM_001309861.1:c.80+944_80+947del NP_001296790.1:n.80+944_80+947del
NM_001309883.1:c.*277-20_*277-17del NP_001296812.1:n.*277-20_*277-17del
NM_016592.2:c.*160+944_*160+947del NP_057676.1:n.*160+944_*160+947del
NM_016592.3:c.*160+944_*160+947del NP_057676.1:n.*160+944_*160+947del
NM_080425.2:c.2186+944_2186+947del NP_536350.2:n.2186+944_2186+947del
NM_080425.3:c.2186+944_2186+947del NP_536350.2:n.2186+944_2186+947del
NM_080426.2:c.213-3599_213-3596del NP_536351.1:n.213-3599_213-3596del
NM_080426.3:c.213-3599_213-3596del NP_536351.1:n.213-3599_213-3596del
NR_003259.1:c.-4294966949+944_-4294966949+947del
NR_132272.1:n.165-20_165-17del
NR_132273.1:n.525-20_525-17del
XM_017027812.2:c.2186+944_2186+947del XP_016883301.1:n.2186+944_2186+947del
XM_017027813.2:c.2142-3599_2142-3596del XP_016883302.1:n.2142-3599_2142-3596del
XM_017027814.2:c.2142-3602_2142-3599del XP_016883303.1:n.2142-3602_2142-3599del
XM_017027815.1:c.117-3602_117-3599del XP_016883304.1:n.117-3602_117-3599del
XM_017027816.1:c.-47-20_-47-17del XP_016883305.1:n.-47-20_-47-17del
XM_017027817.1:c.36-3602_36-3599del XP_016883306.1:n.36-3602_36-3599del
XM_017027818.2:c.36-3602_36-3599del XP_016883307.1:n.36-3602_36-3599del
XM_017027819.1:c.36-3602_36-3599del XP_016883308.1:n.36-3602_36-3599del
XM_017027820.1:c.-47-20_-47-17del XP_016883309.1:n.-47-20_-47-17del
XM_017027821.1:c.*160+944_*160+947del XP_016883310.1:n.*160+944_*160+947del
XM_017027822.1:c.*116-3602_*116-3599del XP_016883311.1:n.*116-3602_*116-3599del
XM_024451872.1:c.161+944_161+947del XP_024307640.1:n.161+944_161+947del
XM_024451873.1:c.80+944_80+947del XP_024307641.1:n.80+944_80+947del
XM_024451874.1:c.80+944_80+947del XP_024307642.1:n.80+944_80+947del
XM_024451875.1:c.80+944_80+947del XP_024307643.1:n.80+944_80+947del
XR_002958471.1:n.883-20_883-17del
NM_000516.6:c.257+944_257+947del NP_000507.1:n.257+944_257+947del
NM_001077488.4:c.257+944_257+947del NP_001070956.1:n.257+944_257+947del
NM_001077489.4:c.213-3602_213-3599del NP_001070957.1:n.213-3602_213-3599del
NM_001309840.2:c.80+944_80+947del NP_001296769.1:n.80+944_80+947del
NM_001309842.2:c.258-20_258-17del NP_001296771.1:n.258-20_258-17del
NM_001309861.2:c.80+944_80+947del NP_001296790.1:n.80+944_80+947del
NM_016592.4:c.*160+944_*160+947del NP_057676.1:n.*160+944_*160+947del
NM_080426.4:c.213-3599_213-3596del NP_536351.1:n.213-3599_213-3596del
NR_132272.2:n.166-20_166-17del
NM_000516.7:c.257+944_257+947del MANE Select NP_000507.1:n.257+944_257+947del
NM_001077488.5:c.257+944_257+947del NP_001070956.1:n.257+944_257+947del
NM_001077490.3:c.*118+944_*118+947del NP_001070958.1:n.*118+944_*118+947del
NM_016592.5:c.*160+944_*160+947del MANE Plus Clinical NP_057676.1:n.*160+944_*160+947del
NM_080425.4:c.2186+944_2186+947del MANE Plus Clinical NP_536350.2:n.2186+944_2186+947del
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