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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:
CA2670463041
Gene: GRXCR1
HGNC
NCBI
Linked Data
gnomAD v4:
4-42893568-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.42893569del , CM000666.2:g.42893569del
GRCh38
NC_000004.11:g.42895586del , CM000666.1:g.42895586del
GRCh37
NC_000004.10:g.42590343del
NCBI36
NG_027718.1:g.5304del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399770.3:c.303del
MANE Select
ENSP00000382670.2:p.Ser101ArgfsTer13
ENST00000399770.2:c.303del
ENSP00000382670.2:p.Ser101ArgfsTer13
NM_001080476.2:c.303del
NP_001073945.1:p.Ser101ArgfsTer13
NM_001080476.3:c.303del
MANE Select
NP_001073945.1:p.Ser101ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'