Canonical Allele Identifier: CA2420207119
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007429_25007430delinsTG , CM000685.2:g.25007429_25007430delinsTG GRCh38
NC_000023.10:g.25025546_25025547delinsTG , CM000685.1:g.25025546_25025547delinsTG GRCh37
NC_000023.9:g.24935467_24935468delinsTG NCBI36
NG_008281.1:g.13519_13520delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1129_1130delinsCA MANE Select ENSP00000368332.4:p.Gln377=
ENST00000379044.4:c.1129_1130delinsCA ENSP00000368332.4:p.Gln377=
NM_139058.2:c.1129_1130delinsCA NP_620689.1:p.Gln377=
NM_139058.3:c.1129_1130delinsCA MANE Select NP_620689.1:p.Gln377=
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