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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:
CA2690904622
Gene: FOXE1
HGNC
NCBI
Linked Data
gnomAD v4:
9-97853888-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97853889del , CM000671.2:g.97853889del
GRCh38
NC_000009.11:g.100616171del , CM000671.1:g.100616171del
GRCh37
NC_000009.10:g.99655992del
NCBI36
NG_011979.1:g.5635del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375123.5:c.-26del
MANE Select
ENSP00000364265.3:n.-26del
ENST00000375123.4:c.-26del
ENSP00000364265.3:n.-26del
NM_004473.3:c.-26del
NP_004464.2:n.-26del
NM_004473.4:c.-26del
MANE Select
NP_004464.2:n.-26del
Search 100 bp 5'
Search 100 bp 3'