Canonical Allele Identifier: CA2590338691

Gene: FOXG1

Linked Data

• dbSNP Id: rs2138662557
• gnomAD v3: 14-28768848-C-CA
• gnomAD v4: 14-28768848-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768848_28768849insA , CM000676.2:g.28768848_28768849insA	GRCh38
NC_000014.8:g.29238054_29238055insA , CM000676.1:g.29238054_29238055insA	GRCh37
NC_000014.7:g.28307805_28307806insA	NCBI36
NG_009367.1:g.6768_6769insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.*99_*100insA	ENSP00000516406.1:n.*99_*100insA
ENST00000313071.7:c.*99_*100insA MANE Select	ENSP00000339004.3:n.*99_*100insA
ENST00000313071.6:c.*99_*100insA	ENSP00000339004.3:n.*99_*100insA
NM_005249.4:c.*99_*100insA	NP_005240.3:n.*99_*100insA
NM_005249.5:c.*99_*100insA MANE Select	NP_005240.3:n.*99_*100insA