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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:
CA1105629914
Gene: SLC26A4
HGNC
NCBI
Linked Data
gnomAD v3:
7-107717406-TC-T
gnomAD v4:
7-107717406-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.107717407del , CM000669.2:g.107717407del
GRCh38
NC_000007.13:g.107357852del , CM000669.1:g.107357852del
GRCh37
NC_000007.12:g.107145088del
NCBI36
NG_008489.1:g.61773del
Transcript Alleles
HGVS
Amino-acid change
ENST00000644269.2:c.*1961del
MANE Select
ENSP00000494017.1:n.*1961del
ENST00000265715.7:c.*1961del
ENSP00000265715.3:n.*1961del
NM_000441.1:c.*1961del
NP_000432.1:n.*1961del
NM_000441.2:c.*1961del
MANE Select
NP_000432.1:n.*1961del
Search 100 bp 5'
Search 100 bp 3'