Canonical Allele Identifier: CA2420205986
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004902_25004903delinsGA , CM000685.2:g.25004902_25004903delinsGA GRCh38
NC_000023.10:g.25023019_25023020delinsGA , CM000685.1:g.25023019_25023020delinsGA GRCh37
NC_000023.9:g.24932940_24932941delinsGA NCBI36
NG_008281.1:g.16046_16047delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1456_1457delinsTC MANE Select ENSP00000368332.4:p.Ser486=
ENST00000636885.1:n.44_45delinsTC
ENST00000379044.4:c.1456_1457delinsTC ENSP00000368332.4:p.Ser486=
NM_139058.2:c.1456_1457delinsTC NP_620689.1:p.Ser486=
NM_139058.3:c.1456_1457delinsTC MANE Select NP_620689.1:p.Ser486=
Search 100 bp 5'
Search 100 bp 3'