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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:
CA2579637273
Gene: ARX
HGNC
NCBI
Linked Data
gnomAD v4:
X-25007048-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25007053del , CM000685.2:g.25007053del
GRCh38
NC_000023.10:g.25025170del , CM000685.1:g.25025170del
GRCh37
NC_000023.9:g.24935091del
NCBI36
NG_008281.1:g.13900del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1448+62del
MANE Select
ENSP00000368332.4:n.1448+62del
ENST00000637993.1:c.61+62del
ENST00000379044.4:c.1448+62del
ENSP00000368332.4:n.1448+62del
NM_139058.2:c.1448+62del
NP_620689.1:n.1448+62del
NM_139058.3:c.1448+62del
MANE Select
NP_620689.1:n.1448+62del
Search 100 bp 5'
Search 100 bp 3'