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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:
CA3031049
Gene: TACR3
HGNC
NCBI
Linked Data
dbSNP Id:
rs750084419
ExAC:
4:104577426 TC / T
gnomAD v2:
4-104577426-TC-T
gnomAD v3:
4-103656269-TC-T
gnomAD v4:
4-103656269-TC-T
MyVariant Identifiers:
chr4:g.104577427del (hg19)
chr4:g.103656270del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.103656271del , CM000666.2:g.103656271del
GRCh38
NC_000004.11:g.104577428del , CM000666.1:g.104577428del
GRCh37
NC_000004.10:g.104796877del
NCBI36
NG_023344.1:g.68547del
Transcript Alleles
HGVS
Amino-acid change
ENST00000304883.3:c.812del
MANE Select
ENSP00000303325.2:p.Gly271GlufsTer21
ENST00000304883.2:c.812del
ENSP00000303325.2:p.Gly271GlufsTer21
NM_001059.2:c.812del
NP_001050.1:p.Gly271GlufsTer21
NM_001059.3:c.812del
MANE Select
NP_001050.1:p.Gly271GlufsTer21
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Search 100 bp 3'