Canonical Allele Identifier: CA2420207058
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007254_25007260delinsGGCGGCA , CM000685.2:g.25007254_25007260delinsGGCGGCA GRCh38
NC_000023.10:g.25025371_25025377delinsGGCGGCA , CM000685.1:g.25025371_25025377delinsGGCGGCA GRCh37
NC_000023.9:g.24935292_24935298delinsGGCGGCA NCBI36
NG_008281.1:g.13689_13695delinsTGCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1299_1305delinsTGCCGCC MANE Select ENSP00000368332.4:p.Ala433=
ENST00000379044.4:c.1299_1305delinsTGCCGCC ENSP00000368332.4:p.Ala433=
NM_139058.2:c.1299_1305delinsTGCCGCC NP_620689.1:p.Ala433=
NM_139058.3:c.1299_1305delinsTGCCGCC MANE Select NP_620689.1:p.Ala433=
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