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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:
CA1031837415
Gene: PLEK
HGNC
NCBI
Linked Data
dbSNP Id:
rs1673415519
gnomAD v3:
2-68371884-AC-A
gnomAD v4:
2-68371884-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.68371885del , CM000664.2:g.68371885del
GRCh38
NC_000002.11:g.68599017del , CM000664.1:g.68599017del
GRCh37
NC_000002.10:g.68452521del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000234313.8:c.42+6492del
MANE Select
ENSP00000234313.7:n.42+6492del
ENST00000234313.7:c.42+6492del
ENSP00000234313.7:n.42+6492del
NM_002664.2:c.42+6492del
NP_002655.2:n.42+6492del
XM_011532916.1:c.42+6492del
XP_011531218.1:n.42+6492del
NM_002664.3:c.42+6492del
MANE Select
NP_002655.2:n.42+6492del
Search 100 bp 5'
Search 100 bp 3'