Canonical Allele Identifier: CA522813509
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI
ClinVar RCV:
RCV000811991
RCV000845078
RCV002352416
ClinVar Variation:
655743
dbSNP:
1336140217
gnomAD v2:
1:47882559 ACGCGCC / A
gnomAD v3:
1:47416887 ACGCGCC / A
gnomAD v4:
chr1-47416887-ACGCGCC-A
Joint Max Group AF 0.00007428 (AMR)
Genomes Max Group AF 0.00013155 (AMR)
Exomes Max Group AF 0.00004281 (NFE)
MyVariant.info:
GRCh38 chr1:g.47416888_47416893del
GRCh37 chr1:g.47882560_47882565del
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416896_47416901del , CM000663.2:g.47416896_47416901del GRCh38
NC_000001.10:g.47882568_47882573del , CM000663.1:g.47882568_47882573del GRCh37
NC_000001.9:g.47655155_47655160del NCBI36
NG_016192.1:g.5825_5830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000335071.4:c.581_586del (FOXE3) MANE Select ENSP00000334472.2:p.Ala194_Pro195del
ENST00000335071.3:c.581_586del (FOXE3) ENSP00000334472.2:p.Ala194_Pro195del
NM_012186.2:c.581_586del (FOXE3) NP_036318.1:p.Ala194_Pro195del
NR_126355.1:n.29-6992_29-6987del (LINC01389)
NM_012186.3:c.581_586del (FOXE3) MANE Select NP_036318.1:p.Ala194_Pro195del
Search 100 bp 5'
Search 100 bp 3'