Canonical Allele Identifier: CA2126000295
Gene: FOXG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768132_28768133delinsGC , CM000676.2:g.28768132_28768133delinsGC GRCh38
NC_000014.8:g.29237338_29237339delinsGC , CM000676.1:g.29237338_29237339delinsGC GRCh37
NC_000014.7:g.28307089_28307090delinsGC NCBI36
NG_009367.1:g.6052_6053delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.853_854delinsGC ENSP00000516406.1:p.Ala285=
ENST00000313071.7:c.853_854delinsGC MANE Select ENSP00000339004.3:p.Ala285=
ENST00000313071.6:c.853_854delinsGC ENSP00000339004.3:p.Ala285=
NM_005249.4:c.853_854delinsGC NP_005240.3:p.Ala285=
NM_005249.5:c.853_854delinsGC MANE Select NP_005240.3:p.Ala285=
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