Canonical Allele Identifier: CA2653524707

Gene: GNAS

Linked Data

• gnomAD v4: 20-58899919-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58899923_58899924del , CM000682.2:g.58899923_58899924del	GRCh38
NC_000020.10:g.57474978_57474979del , CM000682.1:g.57474978_57474979del	GRCh37
NC_000020.9:g.56908373_56908374del	NCBI36
NG_016194.1:g.65184_65185del
NG_016194.2:g.65184_65185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2142-3608_2142-3607del	ENSP00000265621.6:n.2142-3608_2142-3607del
ENST00000419558.7:c.*116-3608_*116-3607del	ENSP00000416234.2:n.*116-3608_*116-3607del
ENST00000423897.7:c.2187-26_2187-25del	ENSP00000412356.2:n.2187-26_2187-25del
ENST00000453292.7:c.854-3605_854-3604del	ENSP00000392000.2:n.854-3605_854-3604del
ENST00000462499.6:c.36-3605_36-3604del	ENSP00000499758.2:n.36-3605_36-3604del
ENST00000464624.7:c.*99+938_*99+939del	ENSP00000499607.2:n.*99+938_*99+939del
ENST00000464788.6:c.80+938_80+939del	ENSP00000499239.2:n.80+938_80+939del
ENST00000467227.6:c.36-3605_36-3604del	ENSP00000499681.2:n.36-3605_36-3604del
ENST00000467321.6:c.80+938_80+939del	ENSP00000499523.2:n.80+938_80+939del
ENST00000468895.6:c.257+938_257+939del	ENSP00000499551.2:n.257+938_257+939del
ENST00000469431.6:c.80+938_80+939del	ENSP00000499654.2:n.80+938_80+939del
ENST00000470512.6:c.80+938_80+939del	ENSP00000499552.2:n.80+938_80+939del
ENST00000472183.6:c.80+938_80+939del	ENSP00000499673.2:n.80+938_80+939del
ENST00000476935.6:c.36-3608_36-3607del	ENSP00000499409.2:n.36-3608_36-3607del
ENST00000478585.6:c.36-3605_36-3604del	ENSP00000499762.2:n.36-3605_36-3604del
ENST00000480232.6:c.80+938_80+939del	ENSP00000499545.2:n.80+938_80+939del
ENST00000481039.6:c.36-3605_36-3604del	ENSP00000499767.2:n.36-3605_36-3604del
ENST00000482112.6:c.36-3608_36-3607del	ENSP00000499794.2:n.36-3608_36-3607del
ENST00000483387.2:n.756-26_756-25del
ENST00000485673.6:c.36-3605_36-3604del	ENSP00000499334.2:n.36-3605_36-3604del
ENST00000488546.6:c.36-3605_36-3604del	ENSP00000499332.2:n.36-3605_36-3604del
ENST00000488652.6:c.80+938_80+939del	ENSP00000499435.2:n.80+938_80+939del
ENST00000492907.6:c.36-3605_36-3604del	ENSP00000499443.2:n.36-3605_36-3604del
ENST00000603546.2:c.80+938_80+939del	ENSP00000474802.2:n.80+938_80+939del
ENST00000604005.6:c.80+938_80+939del	ENSP00000474219.2:n.80+938_80+939del
ENST00000663479.2:c.80+938_80+939del	ENSP00000499353.2:n.80+938_80+939del
ENST00000667293.2:c.80+938_80+939del	ENSP00000499293.2:n.80+938_80+939del
ENST00000676826.2:c.2186+938_2186+939del	ENSP00000504675.2:n.2186+938_2186+939del
ENST00000682134.1:n.2183+938_2183+939del
ENST00000682803.1:c.-71+761_-71+762del	ENSP00000507069.1:n.-71+761_-71+762del
ENST00000682829.1:n.2586-3608_2586-3607del
ENST00000683015.1:c.1027+938_1027+939del	ENSP00000506815.1:n.1027+938_1027+939del
ENST00000684284.1:n.2635+938_2635+939del
ENST00000306090.12:c.161+938_161+939del	ENSP00000304472.12:n.161+938_161+939del
ENST00000338783.7:c.213-26_213-25del	ENSP00000345971.7:n.213-26_213-25del
ENST00000349036.8:c.2142-3608_2142-3607del	ENSP00000265621.5:n.2142-3608_2142-3607del
ENST00000354359.12:c.257+938_257+939del	ENSP00000346328.7:n.257+938_257+939del
ENST00000371085.8:c.257+938_257+939del MANE Select	ENSP00000360126.3:n.257+938_257+939del
ENST00000371100.9:c.2186+938_2186+939del MANE Plus Clinical	ENSP00000360141.3:n.2186+938_2186+939del
ENST00000419558.6:c.*116-3608_*116-3607del	ENSP00000416234.2:n.*116-3608_*116-3607del
ENST00000423897.6:c.2187-26_2187-25del	ENSP00000412356.2:n.2187-26_2187-25del
ENST00000453292.6:c.*116-3605_*116-3604del	ENSP00000392000.2:n.*116-3605_*116-3604del
ENST00000461152.6:c.983-3605_983-3604del	ENSP00000499274.1:n.983-3605_983-3604del
ENST00000481768.6:c.*86-26_*86-25del	ENSP00000499644.2:n.*86-26_*86-25del
ENST00000490374.6:n.341-26_341-25del
ENST00000657090.1:c.80+938_80+939del	ENSP00000499380.1:n.80+938_80+939del
ENST00000663479.1:c.80+938_80+939del	ENSP00000499353.1:n.80+938_80+939del
ENST00000667293.1:c.128+938_128+939del	ENSP00000499293.1:n.128+938_128+939del
ENST00000676826.1:c.2186+938_2186+939del	ENSP00000504675.1:n.2186+938_2186+939del
ENST00000265620.11:c.213-3608_213-3607del	ENSP00000265620.7:n.213-3608_213-3607del
ENST00000306090.11:c.93+8104_93+8105del	ENSP00000304472.11:n.93+8104_93+8105del
ENST00000313949.11:c.*160+938_*160+939del	ENSP00000323571.7:n.*160+938_*160+939del
ENST00000338783.6:c.180-26_180-25del	ENSP00000345971.6:n.180-26_180-25del
ENST00000349036.7:c.305+938_305+939del	ENSP00000265621.4:n.305+938_305+939del
ENST00000354359.11:c.257+938_257+939del	ENSP00000346328.7:n.257+938_257+939del
ENST00000371075.7:c.*160+938_*160+939del MANE Plus Clinical	ENSP00000360115.3:n.*160+938_*160+939del
ENST00000371081.5:c.258-26_258-25del	ENSP00000360122.1:n.258-26_258-25del
ENST00000371085.7:c.257+938_257+939del	ENSP00000360126.3:n.257+938_257+939del
ENST00000371095.7:c.213-3605_213-3604del	ENSP00000360136.3:n.213-3605_213-3604del
ENST00000371098.6:c.*161-26_*161-25del	ENSP00000360139.2:n.*161-26_*161-25del
ENST00000371100.8:c.2186+938_2186+939del	ENSP00000360141.3:n.2186+938_2186+939del
ENST00000371102.8:c.2142-3605_2142-3604del	ENSP00000360143.4:n.2142-3605_2142-3604del
ENST00000419558.5:c.457-3608_457-3607del
ENST00000423897.5:c.275-26_275-25del
ENST00000450130.5:c.301-3608_301-3607del
ENST00000453292.5:c.617-3605_617-3604del	ENSP00000392000.1:n.617-3605_617-3604del
ENST00000461152.5:n.221-3605_221-3604del
ENST00000462499.5:n.332-3605_332-3604del
ENST00000464624.6:n.2473+938_2473+939del
ENST00000464788.5:n.185+938_185+939del
ENST00000464960.5:n.525-26_525-25del
ENST00000467227.5:n.196-3605_196-3604del
ENST00000467321.5:n.272+938_272+939del
ENST00000468895.5:n.124-3605_124-3604del
ENST00000469431.5:n.374+938_374+939del
ENST00000470512.5:n.328+938_328+939del
ENST00000472183.5:n.509+938_509+939del
ENST00000476935.5:n.247-3608_247-3607del
ENST00000477931.5:n.372+938_372+939del
ENST00000478585.5:n.268-3605_268-3604del
ENST00000480232.5:n.273+938_273+939del
ENST00000480975.5:n.257-3608_257-3607del
ENST00000481039.5:n.174+938_174+939del
ENST00000481768.5:n.1442-26_1442-25del
ENST00000482112.5:n.332-3608_332-3607del
ENST00000483387.1:n.567+938_567+939del
ENST00000484504.5:n.201-26_201-25del
ENST00000485673.5:n.500-3605_500-3604del
ENST00000487862.5:n.489-3605_489-3604del
ENST00000488546.5:n.114-3605_114-3604del
ENST00000488652.5:n.347+938_347+939del
ENST00000490374.5:n.372+938_372+939del
ENST00000491348.5:n.607-26_607-25del
ENST00000492907.5:n.206-3605_206-3604del
ENST00000493744.5:n.351-26_351-25del
ENST00000496934.5:n.1546+938_1546+939del
ENST00000603546.1:c.80+938_80+939del	ENSP00000474802.1:n.80+938_80+939del
ENST00000604005.5:c.80+938_80+939del	ENSP00000474219.1:n.80+938_80+939del
NM_000516.4:c.257+938_257+939del	NP_000507.1:n.257+938_257+939del
NM_000516.5:c.257+938_257+939del	NP_000507.1:n.257+938_257+939del
NM_001077488.2:c.257+938_257+939del	NP_001070956.1:n.257+938_257+939del
NM_001077488.3:c.257+938_257+939del	NP_001070956.1:n.257+938_257+939del
NM_001077489.2:c.213-3608_213-3607del	NP_001070957.1:n.213-3608_213-3607del
NM_001077489.3:c.213-3608_213-3607del	NP_001070957.1:n.213-3608_213-3607del
NM_001077490.1:c.*118+938_*118+939del	NP_001070958.1:n.*118+938_*118+939del
NM_001077490.2:c.*118+938_*118+939del	NP_001070958.1:n.*118+938_*118+939del
NM_001309840.1:c.80+938_80+939del	NP_001296769.1:n.80+938_80+939del
NM_001309842.1:c.258-26_258-25del	NP_001296771.1:n.258-26_258-25del
NM_001309861.1:c.80+938_80+939del	NP_001296790.1:n.80+938_80+939del
NM_001309883.1:c.*277-26_*277-25del	NP_001296812.1:n.*277-26_*277-25del
NM_016592.2:c.*160+938_*160+939del	NP_057676.1:n.*160+938_*160+939del
NM_016592.3:c.*160+938_*160+939del	NP_057676.1:n.*160+938_*160+939del
NM_080425.2:c.2186+938_2186+939del	NP_536350.2:n.2186+938_2186+939del
NM_080425.3:c.2186+938_2186+939del	NP_536350.2:n.2186+938_2186+939del
NM_080426.2:c.213-3605_213-3604del	NP_536351.1:n.213-3605_213-3604del
NM_080426.3:c.213-3605_213-3604del	NP_536351.1:n.213-3605_213-3604del
NR_003259.1:c.-4294966949+938_-4294966949+939del
NR_132272.1:n.165-26_165-25del
NR_132273.1:n.525-26_525-25del
XM_017027812.2:c.2186+938_2186+939del	XP_016883301.1:n.2186+938_2186+939del
XM_017027813.2:c.2142-3605_2142-3604del	XP_016883302.1:n.2142-3605_2142-3604del
XM_017027814.2:c.2142-3608_2142-3607del	XP_016883303.1:n.2142-3608_2142-3607del
XM_017027815.1:c.117-3608_117-3607del	XP_016883304.1:n.117-3608_117-3607del
XM_017027816.1:c.-47-26_-47-25del	XP_016883305.1:n.-47-26_-47-25del
XM_017027817.1:c.36-3608_36-3607del	XP_016883306.1:n.36-3608_36-3607del
XM_017027818.2:c.36-3608_36-3607del	XP_016883307.1:n.36-3608_36-3607del
XM_017027819.1:c.36-3608_36-3607del	XP_016883308.1:n.36-3608_36-3607del
XM_017027820.1:c.-47-26_-47-25del	XP_016883309.1:n.-47-26_-47-25del
XM_017027821.1:c.*160+938_*160+939del	XP_016883310.1:n.*160+938_*160+939del
XM_017027822.1:c.*116-3608_*116-3607del	XP_016883311.1:n.*116-3608_*116-3607del
XM_024451872.1:c.161+938_161+939del	XP_024307640.1:n.161+938_161+939del
XM_024451873.1:c.80+938_80+939del	XP_024307641.1:n.80+938_80+939del
XM_024451874.1:c.80+938_80+939del	XP_024307642.1:n.80+938_80+939del
XM_024451875.1:c.80+938_80+939del	XP_024307643.1:n.80+938_80+939del
XR_002958471.1:n.883-26_883-25del
NM_000516.6:c.257+938_257+939del	NP_000507.1:n.257+938_257+939del
NM_001077488.4:c.257+938_257+939del	NP_001070956.1:n.257+938_257+939del
NM_001077489.4:c.213-3608_213-3607del	NP_001070957.1:n.213-3608_213-3607del
NM_001309840.2:c.80+938_80+939del	NP_001296769.1:n.80+938_80+939del
NM_001309842.2:c.258-26_258-25del	NP_001296771.1:n.258-26_258-25del
NM_001309861.2:c.80+938_80+939del	NP_001296790.1:n.80+938_80+939del
NM_016592.4:c.*160+938_*160+939del	NP_057676.1:n.*160+938_*160+939del
NM_080426.4:c.213-3605_213-3604del	NP_536351.1:n.213-3605_213-3604del
NR_132272.2:n.166-26_166-25del
NM_000516.7:c.257+938_257+939del MANE Select	NP_000507.1:n.257+938_257+939del
NM_001077488.5:c.257+938_257+939del	NP_001070956.1:n.257+938_257+939del
NM_001077490.3:c.*118+938_*118+939del	NP_001070958.1:n.*118+938_*118+939del
NM_016592.5:c.*160+938_*160+939del MANE Plus Clinical	NP_057676.1:n.*160+938_*160+939del
NM_080425.4:c.2186+938_2186+939del MANE Plus Clinical	NP_536350.2:n.2186+938_2186+939del