Canonical Allele Identifier: CA213345
Community Standard Title: NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389GlnfsTer?)
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007397_25007398insTGCTT , CM000685.2:g.25007397_25007398insTGCTT GRCh38
NC_000023.10:g.25025514_25025515insTGCTT , CM000685.1:g.25025514_25025515insTGCTT GRCh37
NC_000023.9:g.24935435_24935436insTGCTT NCBI36
NG_008281.1:g.13554_13555insCAAAG

Transcript Alleles

HGVS Amino-acid Change
NM_139058.3:c.1164_1165insCAAAG MANE Select NP_620689.1:p.Ala389GlnfsTer?
ENST00000379044.5:c.1164_1165insCAAAG MANE Select ENSP00000368332.4:p.Ala389GlnfsTer?
NM_139058.2:c.1164_1165insCAAAG NP_620689.1:p.Ala389GlnfsTer?
ENST00000379044.4:c.1164_1165insCAAAG ENSP00000368332.4:p.Ala389GlnfsTer?
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