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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:
CA2693353654
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25010194-C-CCAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010194_25010195insCAAAAA , CM000685.2:g.25010194_25010195insCAAAAA
GRCh38
NC_000023.10:g.25028311_25028312insCAAAAA , CM000685.1:g.25028311_25028312insCAAAAA
GRCh37
NC_000023.9:g.24938232_24938233insCAAAAA
NCBI36
NG_008281.1:g.10754_10755insTTTTTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+65_1119+66insTTTTTG
MANE Select
ENSP00000368332.4:n.1119+65_1119+66insTTT...
ENST00000379044.4:c.1119+65_1119+66insTTTTTG
ENSP00000368332.4:n.1119+65_1119+66insTTT...
NM_139058.2:c.1119+65_1119+66insTTTTTG
NP_620689.1:n.1119+65_1119+66insTTTTTG
NM_139058.3:c.1119+65_1119+66insTTTTTG
MANE Select
NP_620689.1:n.1119+65_1119+66insTTTTTG
Search 100 bp 5'
Search 100 bp 3'