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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:
CA589533126
Gene: FOXE1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1205550642
gnomAD v2:
9-100616174-CG-C
gnomAD v4:
9-97853892-CG-C
MyVariant Identifiers:
chr9:g.100616175del (hg19)
chr9:g.97853893del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97853897del , CM000671.2:g.97853897del
GRCh38
NC_000009.11:g.100616179del , CM000671.1:g.100616179del
GRCh37
NC_000009.10:g.99656000del
NCBI36
NG_011979.1:g.5643del
Transcript Alleles
HGVS
Amino-acid change
ENST00000375123.5:c.-18del
MANE Select
ENSP00000364265.3:n.-18del
ENST00000375123.4:c.-18del
ENSP00000364265.3:n.-18del
NM_004473.3:c.-18del
NP_004464.2:n.-18del
NM_004473.4:c.-18del
MANE Select
NP_004464.2:n.-18del
Search 100 bp 5'
Search 100 bp 3'