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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:
CA2693353649
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25010194-C-CAACACA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010195_25010196insACACAA , CM000685.2:g.25010195_25010196insACACAA
GRCh38
NC_000023.10:g.25028312_25028313insACACAA , CM000685.1:g.25028312_25028313insACACAA
GRCh37
NC_000023.9:g.24938233_24938234insACACAA
NCBI36
NG_008281.1:g.10754_10755insTGTGTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+65_1119+66insTGTGTT
MANE Select
ENSP00000368332.4:n.1119+65_1119+66insTGT...
ENST00000379044.4:c.1119+65_1119+66insTGTGTT
ENSP00000368332.4:n.1119+65_1119+66insTGT...
NM_139058.2:c.1119+65_1119+66insTGTGTT
NP_620689.1:n.1119+65_1119+66insTGTGTT
NM_139058.3:c.1119+65_1119+66insTGTGTT
MANE Select
NP_620689.1:n.1119+65_1119+66insTGTGTT
Search 100 bp 5'
Search 100 bp 3'