Canonical Allele Identifier: CA2420209308
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013536_25013542delinsGGCGGCC , CM000685.2:g.25013536_25013542delinsGGCGGCC GRCh38
NC_000023.10:g.25031653_25031659delinsGGCGGCC , CM000685.1:g.25031653_25031659delinsGGCGGCC GRCh37
NC_000023.9:g.24941574_24941580delinsGGCGGCC NCBI36
NG_008281.1:g.7407_7413delinsGGCCGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.453_459delinsGGCCGCC MANE Select ENSP00000368332.4:p.Ala151=
ENST00000379044.4:c.453_459delinsGGCCGCC ENSP00000368332.4:p.Ala151=
NM_139058.2:c.453_459delinsGGCCGCC NP_620689.1:p.Ala151=
NM_139058.3:c.453_459delinsGGCCGCC MANE Select NP_620689.1:p.Ala151=
Search 100 bp 5'
Search 100 bp 3'