Canonical Allele Identifier: CA2420207052
Gene: ARX HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007242_25007260delinsGGCGGCGGCGGCGGCGGCA , CM000685.2:g.25007242_25007260delinsGGCGGCGGCGGCGGCGGCA GRCh38
NC_000023.10:g.25025359_25025377delinsGGCGGCGGCGGCGGCGGCA , CM000685.1:g.25025359_25025377delinsGGCGGCGGCGGCGGCGGCA GRCh37
NC_000023.9:g.24935280_24935298delinsGGCGGCGGCGGCGGCGGCA NCBI36
NG_008281.1:g.13689_13707delinsTGCCGCCGCCGCCGCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1299_1317delinsTGCCGCCGCCGCCGCCGCC MANE Select ENSP00000368332.4:p.Ala433=
ENST00000379044.4:c.1299_1317delinsTGCCGCCGCCGCCGCCGCC ENSP00000368332.4:p.Ala433=
NM_139058.2:c.1299_1317delinsTGCCGCCGCCGCCGCCGCC NP_620689.1:p.Ala433=
NM_139058.3:c.1299_1317delinsTGCCGCCGCCGCCGCCGCC MANE Select NP_620689.1:p.Ala433=
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Search 100 bp 3'