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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
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Canonical Allele Identifier:
CA1790512037
Gene: ADHFE1
HGNC
NCBI
VXN
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.66468993_66468999delinsTTATACA , CM000670.2:g.66468993_66468999delinsTTATACA
GRCh38
NC_000008.10:g.67381228_67381234delinsTTATACA , CM000670.1:g.67381228_67381234delinsTTATACA
GRCh37
NC_000008.9:g.67543782_67543788delinsTTATACA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648156.1:c.*540-2437_*540-2431delinsTTATACA
ENSP00000497007.1:n.*540-2437_*540-2431delinsTTATACA
ENST00000480040.5:n.396-2437_396-2431delinsTTATACA
(ADHFE1)
ENST00000482608.6:n.250+8528_250+8534delinsTTATACA
(VXN)
ENST00000519702.5:n.162+8528_162+8534delinsTTATACA
(VXN)
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