Canonical Allele Identifier: CA258396558

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 1109435
• ClinVar RCV Id: RCV001435272
• dbSNP Id: rs1004546223
• MyVariant Identifiers: chr14:g.29236797_29236798insCAGCCG (hg19) ; chr14:g.28767591_28767592insCAGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767592_28767593insAGCCGC , CM000676.2:g.28767592_28767593insAGCCGC	GRCh38
NC_000014.8:g.29236798_29236799insAGCCGC , CM000676.1:g.29236798_29236799insAGCCGC	GRCh37
NC_000014.7:g.28306549_28306550insAGCCGC	NCBI36
NG_009367.1:g.5512_5513insAGCCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000706482.1:c.313_314insAGCCGC	ENSP00000516406.1:p.Leu104_Pro105insGlnPro
ENST00000313071.7:c.313_314insAGCCGC MANE Select	ENSP00000339004.3:p.Leu104_Pro105insGlnPro
ENST00000313071.6:c.313_314insAGCCGC	ENSP00000339004.3:p.Leu104_Pro105insGlnPro
NM_005249.4:c.313_314insAGCCGC	NP_005240.3:p.Leu104_Pro105insGlnPro
NM_005249.5:c.313_314insAGCCGC MANE Select	NP_005240.3:p.Leu104_Pro105insGlnPro