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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:
CA521046633
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1233968375
gnomAD v2:
1-17722190-C-CTG
gnomAD v3:
1-17395694-C-CTG
gnomAD v4:
1-17395694-C-CTG
MyVariant Identifiers:
chr1:g.17722190_17722191insTG (hg19)
chr1:g.17395694_17395695insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395695_17395696dup , CM000663.2:g.17395695_17395696dup
GRCh38
NC_000001.10:g.17722191_17722192dup , CM000663.1:g.17722191_17722192dup
GRCh37
NC_000001.9:g.17594778_17594779dup
NCBI36
NG_032943.1:g.28450_28451dup
NG_032943.2:g.28450_28451dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+32_1618+33dup
MANE Select
ENSP00000483125.1:n.1618+32_1618+33dup
NM_207421.4:c.1618+32_1618+33dup
MANE Select
NP_997304.3:n.1618+32_1618+33dup
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