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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:
CA2579650761
Gene: PGK1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.78118022del , CM000685.2:g.78118022del
GRCh38
NC_000023.10:g.77373519del , CM000685.1:g.77373519del
GRCh37
NC_000023.9:g.77260175del
NCBI36
NG_008862.1:g.18854del
Transcript Alleles
HGVS
Amino-acid change
ENST00000373316.5:c.522-29del
MANE Select
ENSP00000362413.4:n.522-29del
ENST00000644362.1:c.438-29del
ENSP00000496140.1:n.438-29del
ENST00000373316.4:c.522-29del
ENSP00000362413.4:n.522-29del
ENST00000491291.1:n.514-29del
NM_000291.3:c.522-29del
NP_000282.1:n.522-29del
NM_000291.4:c.522-29del
MANE Select
NP_000282.1:n.522-29del
Search 100 bp 5'
Search 100 bp 3'