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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:
CA2630109268
Gene: ALPK3
HGNC
NCBI
Linked Data
gnomAD v4:
15-84840277-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.84840278del , CM000677.2:g.84840278del
GRCh38
NC_000015.9:g.85383509del , CM000677.1:g.85383509del
GRCh37
NC_000015.8:g.83184513del
NCBI36
NG_054748.1:g.28648del
Transcript Alleles
HGVS
Amino-acid change
ENST00000258888.6:c.999del
MANE Select
ENSP00000258888.6:p.Lys334ArgfsTer?
ENST00000258888.5:c.1605del
ENSP00000258888.5:p.Lys536ArgfsTer?
NM_020778.4:c.1605del
NP_065829.3:p.Lys536ArgfsTer?
NM_020778.5:c.999del
MANE Select
NP_065829.4:p.Lys334ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'