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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:
CA1732757151
Gene: SLC26A4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.107717410_107717411delinsGC , CM000669.2:g.107717410_107717411delinsGC
GRCh38
NC_000007.13:g.107357855_107357856delinsGC , CM000669.1:g.107357855_107357856delinsGC
GRCh37
NC_000007.12:g.107145091_107145092delinsGC
NCBI36
NG_008489.1:g.61776_61777delinsGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000644269.2:c.*1964_*1965delinsGC
MANE Select
ENSP00000494017.1:n.*1964_*1965delinsGC
ENST00000265715.7:c.*1964_*1965delinsGC
ENSP00000265715.3:n.*1964_*1965delinsGC
NM_000441.1:c.*1964_*1965delinsGC
NP_000432.1:n.*1964_*1965delinsGC
NM_000441.2:c.*1964_*1965delinsGC
MANE Select
NP_000432.1:n.*1964_*1965delinsGC
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