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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:
CA270169505
Gene: SLC30A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs371644720
MyVariant Identifiers:
chr15:g.45772524del (hg19)
chr15:g.45480326del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.45480326del , CM000677.2:g.45480326del
GRCh38
NC_000015.9:g.45772524del , CM000677.1:g.45772524del
GRCh37
NC_000015.8:g.43559816del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261867.5:c.*4837del
MANE Select
ENSP00000261867.3:n.*4837del
ENST00000261867.4:c.*4837del
ENSP00000261867.3:n.*4837del
NM_013309.5:c.*4837del
NP_037441.2:n.*4837del
NM_013309.6:c.*4837del
MANE Select
NP_037441.2:n.*4837del
Search 100 bp 5'
Search 100 bp 3'