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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:
CA2670819779
Gene: GNRHR
HGNC
NCBI
Linked Data
gnomAD v4:
4-67740439-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.67740441dup , CM000666.2:g.67740441dup
GRCh38
NC_000004.11:g.68606159dup , CM000666.1:g.68606159dup
GRCh37
NC_000004.10:g.68288754dup
NCBI36
NG_009293.1:g.20647dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000226413.5:c.*40dup
MANE Select
ENSP00000226413.5:n.*40dup
ENST00000226413.4:c.*40dup
ENSP00000226413.4:n.*40dup
NM_000406.2:c.*40dup
NP_000397.1:n.*40dup
NM_001012763.1:c.*149dup
NP_001012781.1:n.*149dup
NM_000406.3:c.*40dup
MANE Select
NP_000397.1:n.*40dup
NM_001012763.2:c.*149dup
NP_001012781.1:n.*149dup
Search 100 bp 5'
Search 100 bp 3'