Canonical Allele Identifier: CA2125999013
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1318259337
gnomAD v4: 14-28767557-C-CCGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767565_28767567dup , CM000676.2:g.28767565_28767567dup GRCh38
NC_000014.8:g.29236771_29236773dup , CM000676.1:g.29236771_29236773dup GRCh37
NC_000014.7:g.28306522_28306524dup NCBI36
NG_009367.1:g.5485_5487dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.286_288dup ENSP00000516406.1:p.Asp96_Lys97insAsp
ENST00000313071.7:c.286_288dup MANE Select ENSP00000339004.3:p.Asp96_Lys97insAsp
ENST00000313071.6:c.286_288dup ENSP00000339004.3:p.Asp96_Lys97insAsp
NM_005249.4:c.286_288dup NP_005240.3:p.Asp96_Lys97insAsp
NM_005249.5:c.286_288dup MANE Select NP_005240.3:p.Asp96_Lys97insAsp
Search 100 bp 5'
Search 100 bp 3'