Canonical Allele Identifier: CA872782790

Gene: FMR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.147912072_147912080del , CM000685.2:g.147912072_147912080del	GRCh38
NC_000023.10:g.146993590_146993598del , CM000685.1:g.146993590_146993598del	GRCh37
NC_000023.9:g.146801282_146801290del	NCBI36
NG_007529.1:g.5082_5090del
NG_007529.2:g.5082_5090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370475.9:c.-108_-100del MANE Select	ENSP00000359506.5:n.-108_-100del
ENST00000218200.12:c.-108_-100del	ENSP00000218200.8:n.-108_-100del
ENST00000370471.7:c.-108_-100del	ENSP00000359502.3:n.-108_-100del
ENST00000370477.5:c.-108_-100del	ENSP00000359508.1:n.-108_-100del
ENST00000440235.6:c.-108_-100del	ENSP00000413764.3:n.-108_-100del
ENST00000616614.4:c.-108_-100del	ENSP00000480513.1:n.-108_-100del
ENST00000621453.4:c.-108_-100del	ENSP00000479528.1:n.-108_-100del
ENST00000621987.4:c.-108_-100del
NM_001185075.1:c.-108_-100del	NP_001172004.1:n.-108_-100del
NM_001185076.1:c.-108_-100del	NP_001172005.1:n.-108_-100del
NM_001185081.1:c.-108_-100del	NP_001172010.1:n.-108_-100del
NM_001185082.1:c.-108_-100del	NP_001172011.1:n.-108_-100del
NM_002024.5:c.-108_-100del	NP_002015.1:n.-108_-100del
NR_033699.1:n.122_130del
NR_033700.1:n.122_130del
NM_001185081.2:c.-108_-100del	NP_001172010.1:n.-108_-100del
NM_001185082.2:c.-108_-100del	NP_001172011.1:n.-108_-100del
NM_002024.6:c.-108_-100del MANE Select	NP_002015.1:n.-108_-100del
NR_033699.2:n.154_162del
NR_033700.2:n.154_162del
NM_001185075.2:c.-108_-100del	NP_001172004.1:n.-108_-100del
NM_001185076.2:c.-108_-100del	NP_001172005.1:n.-108_-100del