Canonical Allele Identifier: CA2126000508
Gene: FOXG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768673_28768685delinsCGGGACTGTCTGG , CM000676.2:g.28768673_28768685delinsCGGGACTGTCTGG GRCh38
NC_000014.8:g.29237879_29237891delinsCGGGACTGTCTGG , CM000676.1:g.29237879_29237891delinsCGGGACTGTCTGG GRCh37
NC_000014.7:g.28307630_28307642delinsCGGGACTGTCTGG NCBI36
NG_009367.1:g.6593_6605delinsCGGGACTGTCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1394_1406delinsCGGGACTGTCTGG ENSP00000516406.1:p.Thr465=
ENST00000313071.7:c.1394_1406delinsCGGGACTGTCTGG MANE Select ENSP00000339004.3:p.Thr465=
ENST00000313071.6:c.1394_1406delinsCGGGACTGTCTGG ENSP00000339004.3:p.Thr465=
NM_005249.4:c.1394_1406delinsCGGGACTGTCTGG NP_005240.3:p.Thr465=
NM_005249.5:c.1394_1406delinsCGGGACTGTCTGG MANE Select NP_005240.3:p.Thr465=