Canonical Allele Identifier: CA10602694
Gene: FMR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.147936614G>A , CM000685.2:g.147936614G>A GRCh38
NC_000023.10:g.147018133G>A , CM000685.1:g.147018133G>A GRCh37
NC_000023.9:g.146825825G>A NCBI36
NG_007529.1:g.29625G>A
NG_007529.2:g.29624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475038.3:c.*746+1G>A ENSP00000480450.2:n.*746+1G>A
ENST00000492846.2:n.1090+1G>A
ENST00000495717.6:c.990+1G>A ENSP00000481474.2:n.990+1G>A
ENST00000616382.5:c.990+1G>A ENSP00000481058.2:n.990+1G>A
ENST00000621453.5:c.990+1G>A ENSP00000479528.2:n.990+1G>A
ENST00000621987.5:c.1130+1G>A ENSP00000477839.1:n.1130+1G>A
ENST00000685491.1:c.990+1G>A ENSP00000509963.1:n.990+1G>A
ENST00000686086.1:c.918+1G>A ENSP00000510759.1:n.918+1G>A
ENST00000687593.1:c.990+1G>A ENSP00000509270.1:n.990+1G>A
ENST00000689517.1:c.573+1G>A ENSP00000510686.1:n.573+1G>A
ENST00000689570.1:n.1090+1G>A
ENST00000690137.1:c.990+1G>A ENSP00000509813.1:n.990+1G>A
ENST00000690216.1:c.990+1G>A ENSP00000510631.1:n.990+1G>A
ENST00000691111.1:c.990+1G>A ENSP00000509552.1:n.990+1G>A
ENST00000691214.1:c.990+1G>A ENSP00000510362.1:n.990+1G>A
ENST00000691793.1:n.1090+1G>A
ENST00000692091.1:c.*746+1G>A ENSP00000509221.1:n.*746+1G>A
ENST00000692108.1:c.735+1G>A ENSP00000508963.1:n.735+1G>A
ENST00000693079.1:n.1548+1G>A
ENST00000693452.1:c.*746+1G>A ENSP00000510026.1:n.*746+1G>A
ENST00000693512.1:c.990+1G>A ENSP00000509589.1:n.990+1G>A
ENST00000370475.9:c.990+1G>A MANE Select ENSP00000359506.5:n.990+1G>A
ENST00000218200.12:c.990+1G>A ENSP00000218200.8:n.990+1G>A
ENST00000370470.5:c.990+1G>A ENSP00000359501.1:n.990+1G>A
ENST00000370471.7:c.990+1G>A ENSP00000359502.3:n.990+1G>A
ENST00000370475.8:c.990+1G>A ENSP00000359506.4:n.990+1G>A
ENST00000370477.5:c.990+1G>A ENSP00000359508.1:n.990+1G>A
ENST00000439526.6:c.984+1G>A ENSP00000395923.2:n.984+1G>A
ENST00000440235.6:c.990+1G>A ENSP00000413764.3:n.990+1G>A
ENST00000475038.2:c.543+1G>A
ENST00000616382.4:c.990+1G>A ENSP00000481058.1:n.990+1G>A
ENST00000616614.4:c.*896+1G>A ENSP00000480513.1:n.*896+1G>A
ENST00000620828.4:n.1709+1G>A
ENST00000621453.4:c.990+1G>A ENSP00000479528.1:n.990+1G>A
NM_001185075.1:c.990+1G>A NP_001172004.1:n.990+1G>A
NM_001185076.1:c.990+1G>A NP_001172005.1:n.990+1G>A
NM_001185081.1:c.990+1G>A NP_001172010.1:n.990+1G>A
NM_001185082.1:c.990+1G>A NP_001172011.1:n.990+1G>A
NM_002024.5:c.990+1G>A NP_002015.1:n.990+1G>A
NR_033699.1:n.1219+1G>A
NR_033700.1:n.1219+1G>A
NM_001185081.2:c.990+1G>A NP_001172010.1:n.990+1G>A
NM_001185082.2:c.990+1G>A NP_001172011.1:n.990+1G>A
NM_002024.6:c.990+1G>A MANE Select NP_002015.1:n.990+1G>A
NR_033699.2:n.1251+1G>A
NR_033700.2:n.1251+1G>A
NM_001185075.2:c.990+1G>A NP_001172004.1:n.990+1G>A
NM_001185076.2:c.990+1G>A NP_001172005.1:n.990+1G>A
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