Canonical Allele Identifier: CA2420209171
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048709830
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013228_25013251dup , CM000685.2:g.25013228_25013251dup GRCh38
NC_000023.10:g.25031345_25031368dup , CM000685.1:g.25031345_25031368dup GRCh37
NC_000023.9:g.24941266_24941289dup NCBI36
NG_008281.1:g.7698_7721dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.744_767dup MANE Select ENSP00000368332.4:p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla
ENST00000379044.4:c.744_767dup ENSP00000368332.4:p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla
NM_139058.2:c.744_767dup NP_620689.1:p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla
NM_139058.3:c.744_767dup MANE Select NP_620689.1:p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla
Search 100 bp 5'
Search 100 bp 3'