Canonical Allele Identifier: CA2372519683
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58892044_58892063delinsCGGGCGGGGGCTCAAAAACG , CM000682.2:g.58892044_58892063delinsCGGGCGGGGGCTCAAAAACG GRCh38
NC_000020.10:g.57467099_57467118delinsCGGGCGGGGGCTCAAAAACG , CM000682.1:g.57467099_57467118delinsCGGGCGGGGGCTCAAAAACG GRCh37
NC_000020.9:g.56900494_56900513delinsCGGGCGGGGGCTCAAAAACG NCBI36
NG_016194.1:g.57305_57324delinsCGGGCGGGGGCTCAAAAACG
NG_016194.2:g.57305_57324delinsCGGGCGGGGGCTCAAAAACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000265621.6:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000419558.7:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000416234.2:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000423897.7:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000412356.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000453292.7:c.781-3568_781-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000392000.2:n.781-3568_781-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000462499.6:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499758.2:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000464624.7:c.2160-3568_2160-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499607.2:n.2160-3568_2160-3549delinsCGGGCGGGGGCTCAAA...
ENST00000464788.6:c.-39+2831_-39+2850delinsCGGGCGGGGGCTCAAAAACG ENSP00000499239.2:n.-39+2831_-39+2850delinsCGGGCGGGGGCTCAAAAA...
ENST00000467227.6:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499681.2:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000467321.6:c.-39+2998_-39+3017delinsCGGGCGGGGGCTCAAAAACG ENSP00000499523.2:n.-39+2998_-39+3017delinsCGGGCGGGGGCTCAAAAA...
ENST00000468895.6:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000499551.2:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000469431.6:c.-39+2638_-39+2657delinsCGGGCGGGGGCTCAAAAACG ENSP00000499654.2:n.-39+2638_-39+2657delinsCGGGCGGGGGCTCAAAAA...
ENST00000470512.6:c.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG ENSP00000499552.2:n.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAA...
ENST00000472183.6:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499673.2:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000476935.6:c.-204_-185delinsCGGGCGGGGGCTCAAAAACG ENSP00000499409.2:n.-204_-185delinsCGGGCGGGGGCTCAAAAACG
ENST00000478585.6:c.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG ENSP00000499762.2:n.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAA...
ENST00000480232.6:c.-39+2495_-39+2514delinsCGGGCGGGGGCTCAAAAACG ENSP00000499545.2:n.-39+2495_-39+2514delinsCGGGCGGGGGCTCAAAAA...
ENST00000481039.6:c.-39+3136_-39+3155delinsCGGGCGGGGGCTCAAAAACG ENSP00000499767.2:n.-39+3136_-39+3155delinsCGGGCGGGGGCTCAAAAA...
ENST00000482112.6:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499794.2:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000485673.6:c.-39+2495_-39+2514delinsCGGGCGGGGGCTCAAAAACG ENSP00000499334.2:n.-39+2495_-39+2514delinsCGGGCGGGGGCTCAAAAA...
ENST00000488546.6:c.-39+3226_-39+3245delinsCGGGCGGGGGCTCAAAAACG ENSP00000499332.2:n.-39+3226_-39+3245delinsCGGGCGGGGGCTCAAAAA...
ENST00000488652.6:c.-204_-185delinsCGGGCGGGGGCTCAAAAACG ENSP00000499435.2:n.-204_-185delinsCGGGCGGGGGCTCAAAAACG
ENST00000604005.6:c.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG ENSP00000474219.2:n.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAA...
ENST00000663479.2:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499353.2:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000667293.2:c.-39+3140_-39+3159delinsCGGGCGGGGGCTCAAAAACG ENSP00000499293.2:n.-39+3140_-39+3159delinsCGGGCGGGGGCTCAAAAA...
ENST00000676826.2:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000504675.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000682803.1:c.-366+179_-366+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000507069.1:n.-366+179_-366+198delinsCGGGCGGGGGCTCAAAAA...
ENST00000683015.1:c.909+1255_909+1274delinsCGGGCGGGGGCTCAAAAACG ENSP00000506815.1:n.909+1255_909+1274delinsCGGGCGGGGGCTCAAAAA...
ENST00000306090.12:c.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000304472.12:n.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAAC...
ENST00000338783.7:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000345971.7:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000349036.8:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000265621.5:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000354359.12:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000346328.7:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371085.8:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG MANE Select ENSP00000360126.3:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371100.9:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG MANE Plus Clinical ENSP00000360141.3:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000419558.6:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000416234.2:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000423897.6:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000412356.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000453292.6:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000392000.2:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000461152.6:c.909+1255_909+1274delinsCGGGCGGGGGCTCAAAAACG ENSP00000499274.1:n.909+1255_909+1274delinsCGGGCGGGGGCTCAAAAA...
ENST00000481768.6:c.2227-3568_2227-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499644.2:n.2227-3568_2227-3549delinsCGGGCGGGGGCTCAAA...
ENST00000490374.6:n.223-3568_223-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000657090.1:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499380.1:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000663479.1:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499353.1:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000667293.1:c.11-3568_11-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000499293.1:n.11-3568_11-3549delinsCGGGCGGGGGCTCAAAAACG...
ENST00000676826.1:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000504675.1:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000265620.11:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000265620.7:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000306090.11:c.93+225_93+244delinsCGGGCGGGGGCTCAAAAACG ENSP00000304472.11:n.93+225_93+244delinsCGGGCGGGGGCTCAAAAACG
ENST00000313949.11:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000323571.7:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000338783.6:c.106+179_106+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000345971.6:n.106+179_106+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000349036.7:c.188-3568_188-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000265621.4:n.188-3568_188-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000354359.11:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000346328.7:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371075.7:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG MANE Plus Clinical ENSP00000360115.3:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000371081.5:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000360122.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371085.7:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000360126.3:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371095.7:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG ENSP00000360136.3:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG...
ENST00000371098.6:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000360139.2:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000371100.8:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000360141.3:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000371102.8:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000360143.4:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAA...
ENST00000419558.5:c.384-3568_384-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000423897.5:c.157-3568_157-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000450130.5:c.228-3568_228-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000453292.5:c.544-3568_544-3549delinsCGGGCGGGGGCTCAAAAACG ENSP00000392000.1:n.544-3568_544-3549delinsCGGGCGGGGGCTCAAAAA...
ENST00000461152.5:n.147+1255_147+1274delinsCGGGCGGGGGCTCAAAAACG
ENST00000462499.5:n.259-3568_259-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000464624.6:n.2355+179_2355+198delinsCGGGCGGGGGCTCAAAAACG
ENST00000464788.5:n.67+2831_67+2850delinsCGGGCGGGGGCTCAAAAACG
ENST00000464960.5:n.406+3226_406+3245delinsCGGGCGGGGGCTCAAAAACG
ENST00000467227.5:n.123-3568_123-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000467321.5:n.154+2998_154+3017delinsCGGGCGGGGGCTCAAAAACG
ENST00000468895.5:n.50+3136_50+3155delinsCGGGCGGGGGCTCAAAAACG
ENST00000469431.5:n.256+2638_256+2657delinsCGGGCGGGGGCTCAAAAACG
ENST00000470512.5:n.210+2691_210+2710delinsCGGGCGGGGGCTCAAAAACG
ENST00000472183.5:n.392-3568_392-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000476935.5:n.8_27delinsCGGGCGGGGGCTCAAAAACG
ENST00000477931.5:n.254+2691_254+2710delinsCGGGCGGGGGCTCAAAAACG
ENST00000478585.5:n.194+2691_194+2710delinsCGGGCGGGGGCTCAAAAACG
ENST00000480232.5:n.155+2495_155+2514delinsCGGGCGGGGGCTCAAAAACG
ENST00000480975.5:n.183+2691_183+2710delinsCGGGCGGGGGCTCAAAAACG
ENST00000481039.5:n.56+3140_56+3159delinsCGGGCGGGGGCTCAAAAACG
ENST00000481768.5:n.1324-3568_1324-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000482112.5:n.259-3568_259-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000484504.5:n.127+2691_127+2710delinsCGGGCGGGGGCTCAAAAACG
ENST00000485673.5:n.426+2495_426+2514delinsCGGGCGGGGGCTCAAAAACG
ENST00000488546.5:n.40+3226_40+3245delinsCGGGCGGGGGCTCAAAAACG
ENST00000488652.5:n.64_83delinsCGGGCGGGGGCTCAAAAACG
ENST00000490374.5:n.255-3568_255-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000491348.5:n.534-3568_534-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000493744.5:n.233-3568_233-3549delinsCGGGCGGGGGCTCAAAAACG
ENST00000604005.5:c.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG ENSP00000474219.1:n.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAA...
NM_000516.4:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_000507.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_000516.5:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_000507.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077488.2:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070956.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077488.3:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070956.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077489.2:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070957.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077489.3:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070957.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077490.1:c.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG NP_001070958.1:n.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG
NM_001077490.2:c.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG NP_001070958.1:n.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG
NM_001309840.1:c.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG NP_001296769.1:n.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG
NM_001309842.1:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001296771.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001309861.1:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG NP_001296790.1:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG
NM_001309883.1:c.*159-3568_*159-3549delinsCGGGCGGGGGCTCAAAAACG NP_001296812.1:n.*159-3568_*159-3549delinsCGGGCGGGGGCTCAAAAAC...
NM_016592.2:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG NP_057676.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
NM_016592.3:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG NP_057676.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
NM_080425.2:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG NP_536350.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG
NM_080425.3:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG NP_536350.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG
NM_080426.2:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_536351.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_080426.3:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_536351.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NR_003259.1:c.-4294967067+2691_-4294967067+2710delinsCGGGCGGGGGCTCAAAAACG
NR_132273.1:n.406+3226_406+3245delinsCGGGCGGGGGCTCAAAAACG
XM_017027812.2:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883301.1:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAAC...
XM_017027813.2:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883302.1:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAAC...
XM_017027814.2:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883303.1:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAAC...
XM_017027815.1:c.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883304.1:n.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAACG
XM_017027816.1:c.-166+179_-166+198delinsCGGGCGGGGGCTCAAAAACG XP_016883305.1:n.-166+179_-166+198delinsCGGGCGGGGGCTCAAAAACG
XM_017027817.1:c.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG XP_016883306.1:n.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG
XM_017027818.2:c.-204_-185delinsCGGGCGGGGGCTCAAAAACG XP_016883307.1:n.-204_-185delinsCGGGCGGGGGCTCAAAAACG
XM_017027819.1:c.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG XP_016883308.1:n.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG
XM_017027821.1:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883310.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
XM_017027822.1:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG XP_016883311.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
XM_024451872.1:c.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAACG XP_024307640.1:n.44-3568_44-3549delinsCGGGCGGGGGCTCAAAAACG
XM_024451875.1:c.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG XP_024307643.1:n.-39+2712_-39+2731delinsCGGGCGGGGGCTCAAAAACG
XR_002958471.1:n.764+179_764+198delinsCGGGCGGGGGCTCAAAAACG
NM_000516.6:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_000507.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077488.4:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070956.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077489.4:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070957.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001309840.2:c.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG NP_001296769.1:n.-39+2691_-39+2710delinsCGGGCGGGGGCTCAAAAACG
NM_001309842.2:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001296771.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001309861.2:c.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG NP_001296790.1:n.-38-3568_-38-3549delinsCGGGCGGGGGCTCAAAAACG
NM_016592.4:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG NP_057676.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
NM_080426.4:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_536351.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_000516.7:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG MANE Select NP_000507.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077488.5:c.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG NP_001070956.1:n.139+179_139+198delinsCGGGCGGGGGCTCAAAAACG
NM_001077490.3:c.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG NP_001070958.1:n.*1-3568_*1-3549delinsCGGGCGGGGGCTCAAAAACG
NM_016592.5:c.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG MANE Plus Clinical NP_057676.1:n.*43-3568_*43-3549delinsCGGGCGGGGGCTCAAAAACG
NM_080425.4:c.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG MANE Plus Clinical NP_536350.2:n.2069-3568_2069-3549delinsCGGGCGGGGGCTCAAAAACG