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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:
CA999115373
Gene: PADI6
HGNC
NCBI
Linked Data
gnomAD v3:
1-17393881-CAGGA-C
gnomAD v4:
1-17393881-CAGGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393889_17393892del , CM000663.2:g.17393889_17393892del
GRCh38
NC_000001.10:g.17720385_17720388del , CM000663.1:g.17720385_17720388del
GRCh37
NC_000001.9:g.17592972_17592975del
NCBI36
NG_032943.1:g.26644_26647del
NG_032943.2:g.26644_26647del
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-86_1075-83del
MANE Select
ENSP00000483125.1:n.1075-86_1075-83del
NM_207421.4:c.1075-86_1075-83del
MANE Select
NP_997304.3:n.1075-86_1075-83del
Search 100 bp 5'
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