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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:
CA2693353638
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25010194-C-CCACACAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010194_25010195insCACACAA , CM000685.2:g.25010194_25010195insCACACAA
GRCh38
NC_000023.10:g.25028311_25028312insCACACAA , CM000685.1:g.25028311_25028312insCACACAA
GRCh37
NC_000023.9:g.24938232_24938233insCACACAA
NCBI36
NG_008281.1:g.10754_10755insTTGTGTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+65_1119+66insTTGTGTG
MANE Select
ENSP00000368332.4:n.1119+65_1119+66insTTG...
ENST00000379044.4:c.1119+65_1119+66insTTGTGTG
ENSP00000368332.4:n.1119+65_1119+66insTTG...
NM_139058.2:c.1119+65_1119+66insTTGTGTG
NP_620689.1:n.1119+65_1119+66insTTGTGTG
NM_139058.3:c.1119+65_1119+66insTTGTGTG
MANE Select
NP_620689.1:n.1119+65_1119+66insTTGTGTG
Search 100 bp 5'
Search 100 bp 3'