Canonical Allele Identifier: CA915952416

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147912080_147912081insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG , CM000685.2:g.147912080_147912081insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	GRCh38
NC_000023.10:g.146993598_146993599insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG , CM000685.1:g.146993598_146993599insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	GRCh37
NC_000023.9:g.146801290_146801291insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NCBI36
NG_007529.1:g.5090_5091insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
NG_007529.2:g.5090_5091insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
NM_002024.6:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG MANE Select	NP_002015.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000370475.9:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG MANE Select	ENSP00000359506.5:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185075.1:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172004.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185075.2:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172004.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185076.1:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172005.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185076.2:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172005.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185081.1:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172010.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185081.2:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172010.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185082.1:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172011.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_001185082.2:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_001172011.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NM_002024.5:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	NP_002015.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
NR_033699.1:n.130_131insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
NR_033699.2:n.162_163insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
NR_033700.1:n.130_131insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
NR_033700.2:n.162_163insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
ENST00000218200.12:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000218200.8:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000370471.7:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000359502.3:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000370477.5:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000359508.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000440235.6:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000413764.3:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000616614.4:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000480513.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000621453.4:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	ENSP00000479528.1:n.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG...
ENST00000621987.4:c.-100_-99insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG