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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:
CA2499618928
Gene: PGK1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.78123130del , CM000685.2:g.78123130del
GRCh38
NC_000023.10:g.77378627del , CM000685.1:g.77378627del
GRCh37
NC_000023.9:g.77265283del
NCBI36
NG_008862.1:g.23962del
Transcript Alleles
HGVS
Amino-acid change
ENST00000373316.5:c.757-65del
MANE Select
ENSP00000362413.4:n.757-65del
ENST00000644362.1:c.673-65del
ENSP00000496140.1:n.673-65del
ENST00000373316.4:c.757-65del
ENSP00000362413.4:n.757-65del
ENST00000474281.1:n.164-65del
NM_000291.3:c.757-65del
NP_000282.1:n.757-65del
NM_000291.4:c.757-65del
MANE Select
NP_000282.1:n.757-65del
Search 100 bp 5'
Search 100 bp 3'