Canonical Allele Identifier: CA3054215753
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013542_25013574dup , CM000685.2:g.25013542_25013574dup GRCh38
NC_000023.10:g.25031659_25031691dup , CM000685.1:g.25031659_25031691dup GRCh37
NC_000023.9:g.24941580_24941612dup NCBI36
NG_008281.1:g.7376_7408dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.422_454dup MANE Select ENSP00000368332.4:p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaA...
ENST00000379044.4:c.422_454dup ENSP00000368332.4:p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaA...
NM_139058.2:c.422_454dup NP_620689.1:p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.3:c.422_454dup MANE Select NP_620689.1:p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaA...