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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:
CA2583859245
Gene: PEAK3
HGNC
NCBI
Linked Data
gnomAD v4:
19-2275088-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.2275090del , CM000681.2:g.2275090del
GRCh38
NC_000019.9:g.2275089del , CM000681.1:g.2275089del
GRCh37
NC_000019.8:g.2226089del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342063.5:c.*591del
MANE Select
ENSP00000345102.3:n.*591del
ENST00000342063.4:c.*591del
ENSP00000345102.3:n.*591del
ENST00000621615.1:c.146+5346del
ENSP00000481965.1:n.146+5346del
NM_198532.2:c.*591del
NP_940934.1:n.*591del
NM_198532.3:c.*591del
MANE Select
NP_940934.1:n.*591del
Search 100 bp 5'
Search 100 bp 3'