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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:
CA999115350
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2075216752
gnomAD v3:
1-17393844-TATCTG-T
gnomAD v4:
1-17393844-TATCTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393846_17393850del , CM000663.2:g.17393846_17393850del
GRCh38
NC_000001.10:g.17720342_17720346del , CM000663.1:g.17720342_17720346del
GRCh37
NC_000001.9:g.17592929_17592933del
NCBI36
NG_032943.1:g.26601_26605del
NG_032943.2:g.26601_26605del
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-129_1075-125del
MANE Select
ENSP00000483125.1:n.1075-129_1075-125del
NM_207421.4:c.1075-129_1075-125del
MANE Select
NP_997304.3:n.1075-129_1075-125del
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