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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:
CA2638880920
Gene: NOG
HGNC
NCBI
Linked Data
gnomAD v4:
17-56594238-C-CA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.56594239dup , CM000679.2:g.56594239dup
GRCh38
NC_000017.10:g.54671600dup , CM000679.1:g.54671600dup
GRCh37
NC_000017.9:g.52026599dup
NCBI36
NG_011958.1:g.5541dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000332822.6:c.16dup
MANE Select
ENSP00000328181.4:p.Ser6LysfsTer?
ENST00000332822.4:c.16dup
ENSP00000328181.4:p.Ser6LysfsTer?
NM_005450.4:c.16dup
NP_005441.1:p.Ser6LysfsTer?
NM_005450.6:c.16dup
MANE Select
NP_005441.1:p.Ser6LysfsTer?
Search 100 bp 5'
Search 100 bp 3'