Canonical Allele Identifier: CA5657684

Gene: FGF8

Linked Data

• ClinVar Variation Id: 545463
• ClinVar RCV Id: RCV000656430 ; RCV000711644 ; RCV003619716 ; RCV003928148
• dbSNP Id: rs762175290
• ExAC: 10:103534939 T / TCCCTGCCCAGCGCAGGGC
• gnomAD v2: 10-103534939-T-TCCCTGCCCAGCGCAGGGC
• gnomAD v3: 10-101775182-T-TCCCTGCCCAGCGCAGGGC
• gnomAD v4: 10-101775182-T-TCCCTGCCCAGCGCAGGGC
• MyVariant Identifiers: chr10:g.103534940_103534957dup (hg19) ; chr10:g.103534939_103534940insCCCTGCCCAGCGCAGGGC (hg19) ; chr10:g.101775183_101775200dup (hg38) ; chr10:g.101775182_101775183insCCCTGCCCAGCGCAGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775191_101775208dup , CM000672.2:g.101775191_101775208dup	GRCh38
NC_000010.10:g.103534948_103534965dup , CM000672.1:g.103534948_103534965dup	GRCh37
NC_000010.9:g.103524938_103524955dup	NCBI36
NG_007151.1:g.5871_5888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.86_103dup MANE Select	ENSP00000321797.2:p.Arg34_Glu35insGlyProAlaLeuGlyArg
ENST00000618991.5:c.-123-321_-123-304dup	ENSP00000484420.1:n.-123-321_-123-304dup
ENST00000344255.8:c.86_103dup	ENSP00000340039.3:p.Arg34_Glu35insGlyProAlaLeuGlyArg
ENST00000320185.6:c.86_103dup	ENSP00000321797.2:p.Arg34_Glu35insGlyProAlaLeuGlyArg
ENST00000344255.7:c.86_103dup	ENSP00000340039.3:p.Arg34_Glu35insGlyProAlaLeuGlyArg
ENST00000346714.7:c.70-321_70-304dup	ENSP00000344306.3:n.70-321_70-304dup
ENST00000347978.2:c.70-288_70-271dup	ENSP00000321945.2:n.70-288_70-271dup
ENST00000469792.6:c.*154-321_*154-304dup	ENSP00000473299.1:n.*154-321_*154-304dup
ENST00000485728.1:n.33-288_33-271dup
ENST00000618991.4:c.-123-321_-123-304dup	ENSP00000484420.1:n.-123-321_-123-304dup
NM_001206389.1:c.-123-321_-123-304dup	NP_001193318.1:n.-123-321_-123-304dup
NM_006119.4:c.70-288_70-271dup	NP_006110.1:n.70-288_70-271dup
NM_033163.3:c.86_103dup	NP_149353.1:p.Arg34_Glu35insGlyProAlaLeuGlyArg
NM_033164.3:c.86_103dup	NP_149354.1:p.Arg34_Glu35insGlyProAlaLeuGlyArg
NM_033165.3:c.70-321_70-304dup	NP_149355.1:n.70-321_70-304dup
XM_011539509.1:c.79-288_79-271dup	XP_011537811.1:n.79-288_79-271dup
NM_006119.5:c.70-288_70-271dup	NP_006110.1:n.70-288_70-271dup
NM_033163.4:c.86_103dup	NP_149353.1:p.Arg34_Glu35insGlyProAlaLeuGlyArg
NM_033164.4:c.86_103dup	NP_149354.1:p.Arg34_Glu35insGlyProAlaLeuGlyArg
NM_033165.4:c.70-321_70-304dup	NP_149355.1:n.70-321_70-304dup
NM_001206389.2:c.-123-321_-123-304dup	NP_001193318.1:n.-123-321_-123-304dup
NM_006119.6:c.70-288_70-271dup	NP_006110.1:n.70-288_70-271dup
NM_033163.5:c.86_103dup MANE Select	NP_149353.1:p.Arg34_Glu35insGlyProAlaLeuGlyArg
NM_033165.5:c.70-321_70-304dup	NP_149355.1:n.70-321_70-304dup