Canonical Allele Identifier: CA2624398497
Gene: FOXG1 HGNC NCBI

Linked Data

gnomAD v4: 14-28767450-C-CCCGCCGCCGCCCGCCCCGCAACCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767462_28767485dup , CM000676.2:g.28767462_28767485dup GRCh38
NC_000014.8:g.29236668_29236691dup , CM000676.1:g.29236668_29236691dup GRCh37
NC_000014.7:g.28306419_28306442dup NCBI36
NG_009367.1:g.5382_5405dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.183_206dup ENSP00000516406.1:p.Pro69_Gln70insAlaProGlnProProProProPro
ENST00000313071.7:c.183_206dup MANE Select ENSP00000339004.3:p.Pro69_Gln70insAlaProGlnProProProProPro
ENST00000313071.6:c.183_206dup ENSP00000339004.3:p.Pro69_Gln70insAlaProGlnProProProProPro
NM_005249.4:c.183_206dup NP_005240.3:p.Pro69_Gln70insAlaProGlnProProProProPro
NM_005249.5:c.183_206dup MANE Select NP_005240.3:p.Pro69_Gln70insAlaProGlnProProProProPro
Search 100 bp 5'
Search 100 bp 3'