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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:
CA2684469883
Gene: SLC26A4
HGNC
NCBI
Linked Data
gnomAD v4:
7-107717322-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.107717323del , CM000669.2:g.107717323del
GRCh38
NC_000007.13:g.107357768del , CM000669.1:g.107357768del
GRCh37
NC_000007.12:g.107145004del
NCBI36
NG_008489.1:g.61689del
Transcript Alleles
HGVS
Amino-acid change
ENST00000644269.2:c.*1877del
MANE Select
ENSP00000494017.1:n.*1877del
ENST00000644846.1:c.2876del
ENST00000265715.7:c.*1877del
ENSP00000265715.3:n.*1877del
NM_000441.1:c.*1877del
NP_000432.1:n.*1877del
NM_000441.2:c.*1877del
MANE Select
NP_000432.1:n.*1877del
Search 100 bp 5'
Search 100 bp 3'