Canonical Allele Identifier: CA2420209173

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT , CM000685.2:g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT	GRCh38
NC_000023.10:g.25031347_25031410delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT , CM000685.1:g.25031347_25031410delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT	GRCh37
NC_000023.9:g.24941268_24941331delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT	NCBI36
NG_008281.1:g.7656_7719delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC MANE Select	ENSP00000368332.4:p.Glu234=
ENST00000379044.4:c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC	ENSP00000368332.4:p.Glu234=
NM_139058.2:c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC	NP_620689.1:p.Glu234=
NM_139058.3:c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC MANE Select	NP_620689.1:p.Glu234=