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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:
CA2174091875
Gene: SLC30A4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.45480228_45480229delinsAC , CM000677.2:g.45480228_45480229delinsAC
GRCh38
NC_000015.9:g.45772426_45772427delinsAC , CM000677.1:g.45772426_45772427delinsAC
GRCh37
NC_000015.8:g.43559718_43559719delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000261867.5:c.*4934_*4935delinsGT
MANE Select
ENSP00000261867.3:n.*4934_*4935delinsGT
ENST00000261867.4:c.*4934_*4935delinsGT
ENSP00000261867.3:n.*4934_*4935delinsGT
NM_013309.5:c.*4934_*4935delinsGT
NP_037441.2:n.*4934_*4935delinsGT
NM_013309.6:c.*4934_*4935delinsGT
MANE Select
NP_037441.2:n.*4934_*4935delinsGT
Search 100 bp 5'
Search 100 bp 3'