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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA641006220
Gene: ARX
HGNC
NCBI
Linked Data
dbSNP Id:
rs1443880176
gnomAD v2:
X-25028278-G-GA
MyVariant Identifiers:
chrX:g.25028278_25028279insA (hg19)
chrX:g.25010161_25010162insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010162dup , CM000685.2:g.25010162dup
GRCh38
NC_000023.10:g.25028279dup , CM000685.1:g.25028279dup
GRCh37
NC_000023.9:g.24938200dup
NCBI36
NG_008281.1:g.10787dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+98dup
MANE Select
ENSP00000368332.4:n.1119+98dup
ENST00000379044.4:c.1119+98dup
ENSP00000368332.4:n.1119+98dup
NM_139058.2:c.1119+98dup
NP_620689.1:n.1119+98dup
NM_139058.3:c.1119+98dup
MANE Select
NP_620689.1:n.1119+98dup
Search 100 bp 5'
Search 100 bp 3'