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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:
CA2583859228
Gene: PEAK3
HGNC
NCBI
Linked Data
gnomAD v4:
19-2275079-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.2275080del , CM000681.2:g.2275080del
GRCh38
NC_000019.9:g.2275079del , CM000681.1:g.2275079del
GRCh37
NC_000019.8:g.2226079del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000342063.5:c.*600del
MANE Select
ENSP00000345102.3:n.*600del
ENST00000342063.4:c.*600del
ENSP00000345102.3:n.*600del
ENST00000621615.1:c.146+5336del
ENSP00000481965.1:n.146+5336del
NM_198532.2:c.*600del
NP_940934.1:n.*600del
NM_198532.3:c.*600del
MANE Select
NP_940934.1:n.*600del
Search 100 bp 5'
Search 100 bp 3'