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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:
CA2624398909
Gene: FOXG1
HGNC
NCBI
Linked Data
gnomAD v4:
14-28767603-ACCG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28767606_28767608del , CM000676.2:g.28767606_28767608del
GRCh38
NC_000014.8:g.29236812_29236814del , CM000676.1:g.29236812_29236814del
GRCh37
NC_000014.7:g.28306563_28306565del
NCBI36
NG_009367.1:g.5526_5528del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000706482.1:c.327_329del
ENSP00000516406.1:p.Pro110del
ENST00000313071.7:c.327_329del
MANE Select
ENSP00000339004.3:p.Pro110del
ENST00000313071.6:c.327_329del
ENSP00000339004.3:p.Pro110del
NM_005249.4:c.327_329del
NP_005240.3:p.Pro110del
NM_005249.5:c.327_329del
MANE Select
NP_005240.3:p.Pro110del
Search 100 bp 5'
Search 100 bp 3'