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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:
CA2579637390
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25010194-CAT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010195_25010196del , CM000685.2:g.25010195_25010196del
GRCh38
NC_000023.10:g.25028312_25028313del , CM000685.1:g.25028312_25028313del
GRCh37
NC_000023.9:g.24938233_24938234del
NCBI36
NG_008281.1:g.10753_10754del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+64_1119+65del
MANE Select
ENSP00000368332.4:n.1119+64_1119+65del
ENST00000379044.4:c.1119+64_1119+65del
ENSP00000368332.4:n.1119+64_1119+65del
NM_139058.2:c.1119+64_1119+65del
NP_620689.1:n.1119+64_1119+65del
NM_139058.3:c.1119+64_1119+65del
MANE Select
NP_620689.1:n.1119+64_1119+65del
Search 100 bp 5'
Search 100 bp 3'