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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:
CA537695000
Gene: GAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1294332298
gnomAD v2:
2-171670635-A-AACAACATAAAG
gnomAD v3:
2-170814125-A-AACAACATAAAG
gnomAD v4:
2-170814125-A-AACAACATAAAG
MyVariant Identifiers:
chr2:g.171670635_171670636insACAACATAAAG (hg19)
chr2:g.170814125_170814126insACAACATAAAG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.170814129_170814130insCATAAAGACAA , CM000664.2:g.170814129_170814130insCATAAAGACAA
GRCh38
NC_000002.11:g.171670639_171670640insCATAAAGACAA , CM000664.1:g.171670639_171670640insCATAAAGACAA
GRCh37
NC_000002.10:g.171378885_171378886insCATAAAGACAA
NCBI36
NG_021477.1:g.2440_2441insCATAAAGACAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000454603.5:c.-64+707_-64+708insCATAAAGACAA
ENSP00000402366.1:n.-64+707_-64+708insCATAAAGACAA
XM_011510922.1:c.-64+707_-64+708insCATAAAGACAA
XP_011509224.1:n.-64+707_-64+708insCATAAAGACAA
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