Canonical Allele Identifier: CA636225024

Gene: GNAS

Linked Data

• dbSNP Id: rs1254995454
• gnomAD v2: 20-57466668-A-AGCCCGC
• gnomAD v3: 20-58891613-A-AGCCCGC
• gnomAD v4: 20-58891613-A-AGCCCGC
• MyVariant Identifiers: chr20:g.57466668_57466669insGCCCGC (hg19) ; chr20:g.58891613_58891614insGCCCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891619_58891624dup , CM000682.2:g.58891619_58891624dup	GRCh38
NC_000020.10:g.57466674_57466679dup , CM000682.1:g.57466674_57466679dup	GRCh37
NC_000020.9:g.56900069_56900074dup	NCBI36
NG_016194.1:g.56880_56885dup
NG_016194.2:g.56880_56885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3993_2069-3988dup	ENSP00000265621.6:n.2069-3993_2069-3988dup
ENST00000419558.7:c.*43-3993_*43-3988dup	ENSP00000416234.2:n.*43-3993_*43-3988dup
ENST00000423897.7:c.2069-3993_2069-3988dup	ENSP00000412356.2:n.2069-3993_2069-3988dup
ENST00000453292.7:c.781-3993_781-3988dup	ENSP00000392000.2:n.781-3993_781-3988dup
ENST00000462499.6:c.-38-3993_-38-3988dup	ENSP00000499758.2:n.-38-3993_-38-3988dup
ENST00000464624.7:c.2160-3993_2160-3988dup	ENSP00000499607.2:n.2160-3993_2160-3988dup
ENST00000464788.6:c.-39+2406_-39+2411dup	ENSP00000499239.2:n.-39+2406_-39+2411dup
ENST00000467227.6:c.-38-3993_-38-3988dup	ENSP00000499681.2:n.-38-3993_-38-3988dup
ENST00000467321.6:c.-39+2573_-39+2578dup	ENSP00000499523.2:n.-39+2573_-39+2578dup
ENST00000469431.6:c.-39+2213_-39+2218dup	ENSP00000499654.2:n.-39+2213_-39+2218dup
ENST00000470512.6:c.-39+2266_-39+2271dup	ENSP00000499552.2:n.-39+2266_-39+2271dup
ENST00000472183.6:c.-38-3993_-38-3988dup	ENSP00000499673.2:n.-38-3993_-38-3988dup
ENST00000478585.6:c.-39+2266_-39+2271dup	ENSP00000499762.2:n.-39+2266_-39+2271dup
ENST00000480232.6:c.-39+2070_-39+2075dup	ENSP00000499545.2:n.-39+2070_-39+2075dup
ENST00000481039.6:c.-39+2711_-39+2716dup	ENSP00000499767.2:n.-39+2711_-39+2716dup
ENST00000482112.6:c.-38-3993_-38-3988dup	ENSP00000499794.2:n.-38-3993_-38-3988dup
ENST00000485673.6:c.-39+2070_-39+2075dup	ENSP00000499334.2:n.-39+2070_-39+2075dup
ENST00000488546.6:c.-39+2801_-39+2806dup	ENSP00000499332.2:n.-39+2801_-39+2806dup
ENST00000604005.6:c.-39+2287_-39+2292dup	ENSP00000474219.2:n.-39+2287_-39+2292dup
ENST00000663479.2:c.-38-3993_-38-3988dup	ENSP00000499353.2:n.-38-3993_-38-3988dup
ENST00000667293.2:c.-39+2715_-39+2720dup	ENSP00000499293.2:n.-39+2715_-39+2720dup
ENST00000676826.2:c.2069-3993_2069-3988dup	ENSP00000504675.2:n.2069-3993_2069-3988dup
ENST00000683015.1:c.909+830_909+835dup	ENSP00000506815.1:n.909+830_909+835dup
ENST00000306090.12:c.44-3993_44-3988dup	ENSP00000304472.12:n.44-3993_44-3988dup
ENST00000349036.8:c.2069-3993_2069-3988dup	ENSP00000265621.5:n.2069-3993_2069-3988dup
ENST00000354359.12:c.-108_-103dup	ENSP00000346328.7:n.-108_-103dup
ENST00000371085.8:c.-108_-103dup MANE Select	ENSP00000360126.3:n.-108_-103dup
ENST00000371100.9:c.2069-3993_2069-3988dup MANE Plus Clinical	ENSP00000360141.3:n.2069-3993_2069-3988dup
ENST00000419558.6:c.*43-3993_*43-3988dup	ENSP00000416234.2:n.*43-3993_*43-3988dup
ENST00000423897.6:c.2069-3993_2069-3988dup	ENSP00000412356.2:n.2069-3993_2069-3988dup
ENST00000453292.6:c.*43-3993_*43-3988dup	ENSP00000392000.2:n.*43-3993_*43-3988dup
ENST00000461152.6:c.909+830_909+835dup	ENSP00000499274.1:n.909+830_909+835dup
ENST00000481768.6:c.2227-3993_2227-3988dup	ENSP00000499644.2:n.2227-3993_2227-3988dup
ENST00000490374.6:n.223-3993_223-3988dup
ENST00000657090.1:c.-38-3993_-38-3988dup	ENSP00000499380.1:n.-38-3993_-38-3988dup
ENST00000663479.1:c.-38-3993_-38-3988dup	ENSP00000499353.1:n.-38-3993_-38-3988dup
ENST00000667293.1:c.11-3993_11-3988dup	ENSP00000499293.1:n.11-3993_11-3988dup
ENST00000676826.1:c.2069-3993_2069-3988dup	ENSP00000504675.1:n.2069-3993_2069-3988dup
ENST00000265620.11:c.-108_-103dup	ENSP00000265620.7:n.-108_-103dup
ENST00000313949.11:c.*43-3993_*43-3988dup	ENSP00000323571.7:n.*43-3993_*43-3988dup
ENST00000349036.7:c.188-3993_188-3988dup	ENSP00000265621.4:n.188-3993_188-3988dup
ENST00000354359.11:c.-108_-103dup	ENSP00000346328.7:n.-108_-103dup
ENST00000371075.7:c.*43-3993_*43-3988dup MANE Plus Clinical	ENSP00000360115.3:n.*43-3993_*43-3988dup
ENST00000371085.7:c.-108_-103dup	ENSP00000360126.3:n.-108_-103dup
ENST00000371095.7:c.-108_-103dup	ENSP00000360136.3:n.-108_-103dup
ENST00000371098.6:c.*43-3993_*43-3988dup	ENSP00000360139.2:n.*43-3993_*43-3988dup
ENST00000371100.8:c.2069-3993_2069-3988dup	ENSP00000360141.3:n.2069-3993_2069-3988dup
ENST00000371102.8:c.2069-3993_2069-3988dup	ENSP00000360143.4:n.2069-3993_2069-3988dup
ENST00000419558.5:c.384-3993_384-3988dup
ENST00000423897.5:c.157-3993_157-3988dup
ENST00000450130.5:c.228-3993_228-3988dup
ENST00000453292.5:c.544-3993_544-3988dup	ENSP00000392000.1:n.544-3993_544-3988dup
ENST00000461152.5:n.147+830_147+835dup
ENST00000462499.5:n.259-3993_259-3988dup
ENST00000464624.6:n.2109_2114dup
ENST00000464788.5:n.67+2406_67+2411dup
ENST00000464960.5:n.406+2801_406+2806dup
ENST00000467227.5:n.123-3993_123-3988dup
ENST00000467321.5:n.154+2573_154+2578dup
ENST00000468895.5:n.50+2711_50+2716dup
ENST00000469431.5:n.256+2213_256+2218dup
ENST00000470512.5:n.210+2266_210+2271dup
ENST00000472183.5:n.392-3993_392-3988dup
ENST00000477931.5:n.254+2266_254+2271dup
ENST00000478585.5:n.194+2266_194+2271dup
ENST00000480232.5:n.155+2070_155+2075dup
ENST00000480975.5:n.183+2266_183+2271dup
ENST00000481039.5:n.56+2715_56+2720dup
ENST00000481768.5:n.1324-3993_1324-3988dup
ENST00000482112.5:n.259-3993_259-3988dup
ENST00000484504.5:n.127+2266_127+2271dup
ENST00000485673.5:n.426+2070_426+2075dup
ENST00000488546.5:n.40+2801_40+2806dup
ENST00000490374.5:n.255-3993_255-3988dup
ENST00000491348.5:n.534-3993_534-3988dup
ENST00000493744.5:n.233-3993_233-3988dup
ENST00000604005.5:c.-39+2287_-39+2292dup	ENSP00000474219.1:n.-39+2287_-39+2292dup
NM_000516.4:c.-108_-103dup	NP_000507.1:n.-108_-103dup
NM_000516.5:c.-108_-103dup	NP_000507.1:n.-108_-103dup
NM_001077488.2:c.-108_-103dup	NP_001070956.1:n.-108_-103dup
NM_001077488.3:c.-108_-103dup	NP_001070956.1:n.-108_-103dup
NM_001077489.2:c.-108_-103dup	NP_001070957.1:n.-108_-103dup
NM_001077489.3:c.-108_-103dup	NP_001070957.1:n.-108_-103dup
NM_001077490.1:c.*1-3993_*1-3988dup	NP_001070958.1:n.*1-3993_*1-3988dup
NM_001077490.2:c.*1-3993_*1-3988dup	NP_001070958.1:n.*1-3993_*1-3988dup
NM_001309840.1:c.-39+2266_-39+2271dup	NP_001296769.1:n.-39+2266_-39+2271dup
NM_001309842.1:c.-108_-103dup	NP_001296771.1:n.-108_-103dup
NM_001309861.1:c.-38-3993_-38-3988dup	NP_001296790.1:n.-38-3993_-38-3988dup
NM_001309883.1:c.*159-3993_*159-3988dup	NP_001296812.1:n.*159-3993_*159-3988dup
NM_016592.2:c.*43-3993_*43-3988dup	NP_057676.1:n.*43-3993_*43-3988dup
NM_016592.3:c.*43-3993_*43-3988dup	NP_057676.1:n.*43-3993_*43-3988dup
NM_080425.2:c.2069-3993_2069-3988dup	NP_536350.2:n.2069-3993_2069-3988dup
NM_080425.3:c.2069-3993_2069-3988dup	NP_536350.2:n.2069-3993_2069-3988dup
NM_080426.2:c.-108_-103dup	NP_536351.1:n.-108_-103dup
NM_080426.3:c.-108_-103dup	NP_536351.1:n.-108_-103dup
NR_003259.1:c.-4294967067+2266_-4294967067+2271dup
NR_132273.1:n.406+2801_406+2806dup
XM_017027812.2:c.2069-3993_2069-3988dup	XP_016883301.1:n.2069-3993_2069-3988dup
XM_017027813.2:c.2069-3993_2069-3988dup	XP_016883302.1:n.2069-3993_2069-3988dup
XM_017027814.2:c.2069-3993_2069-3988dup	XP_016883303.1:n.2069-3993_2069-3988dup
XM_017027815.1:c.44-3993_44-3988dup	XP_016883304.1:n.44-3993_44-3988dup
XM_017027816.1:c.-412_-407dup	XP_016883305.1:n.-412_-407dup
XM_017027817.1:c.-39+2266_-39+2271dup	XP_016883306.1:n.-39+2266_-39+2271dup
XM_017027819.1:c.-39+2287_-39+2292dup	XP_016883308.1:n.-39+2287_-39+2292dup
XM_017027821.1:c.*43-3993_*43-3988dup	XP_016883310.1:n.*43-3993_*43-3988dup
XM_017027822.1:c.*43-3993_*43-3988dup	XP_016883311.1:n.*43-3993_*43-3988dup
XM_024451872.1:c.44-3993_44-3988dup	XP_024307640.1:n.44-3993_44-3988dup
XM_024451875.1:c.-39+2287_-39+2292dup	XP_024307643.1:n.-39+2287_-39+2292dup
XR_002958471.1:n.518_523dup
NM_000516.6:c.-108_-103dup	NP_000507.1:n.-108_-103dup
NM_001077488.4:c.-108_-103dup	NP_001070956.1:n.-108_-103dup
NM_001077489.4:c.-108_-103dup	NP_001070957.1:n.-108_-103dup
NM_001309840.2:c.-39+2266_-39+2271dup	NP_001296769.1:n.-39+2266_-39+2271dup
NM_001309842.2:c.-108_-103dup	NP_001296771.1:n.-108_-103dup
NM_001309861.2:c.-38-3993_-38-3988dup	NP_001296790.1:n.-38-3993_-38-3988dup
NM_016592.4:c.*43-3993_*43-3988dup	NP_057676.1:n.*43-3993_*43-3988dup
NM_080426.4:c.-108_-103dup	NP_536351.1:n.-108_-103dup
NM_000516.7:c.-108_-103dup MANE Select	NP_000507.1:n.-108_-103dup
NM_001077488.5:c.-108_-103dup	NP_001070956.1:n.-108_-103dup
NM_001077490.3:c.*1-3993_*1-3988dup	NP_001070958.1:n.*1-3993_*1-3988dup
NM_016592.5:c.*43-3993_*43-3988dup MANE Plus Clinical	NP_057676.1:n.*43-3993_*43-3988dup
NM_080425.4:c.2069-3993_2069-3988dup MANE Plus Clinical	NP_536350.2:n.2069-3993_2069-3988dup