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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:
CA2646776910
Gene: GPR88
HGNC
NCBI
Linked Data
gnomAD v4:
1-100539721-ACGCGCCGGGCCCCGGTGGCGCCGCGCACCCGG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.100539725_100539756del , CM000663.2:g.100539725_100539756del
GRCh38
NC_000001.10:g.101005281_101005312del , CM000663.1:g.101005281_101005312del
GRCh37
NC_000001.9:g.100777869_100777900del
NCBI36
NG_053134.1:g.6554_6585del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000315033.5:c.759_790del
MANE Select
ENSP00000314223.4:p.Pro254GlyfsTer?
ENST00000315033.4:c.759_790del
ENSP00000314223.4:p.Pro254GlyfsTer?
NM_022049.2:c.759_790del
NP_071332.2:p.Pro254GlyfsTer?
NM_022049.3:c.759_790del
MANE Select
NP_071332.2:p.Pro254GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'