Canonical Allele Identifier: CA16616921

Gene: FGF3

Linked Data

• ClinVar Variation Id: 417891
• ClinVar RCV Id: RCV000477891
• dbSNP Id: rs1554981083
• MyVariant Identifiers: chr11:g.69631142dupA (hg19) ; chr11:g.69631141_69631142insA (hg19) ; chr11:g.69816374dupA (hg38) ; chr11:g.69816373_69816374insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69816374dup , CM000673.2:g.69816374dup	GRCh38
NC_000011.9:g.69631142dup , CM000673.1:g.69631142dup	GRCh37
NC_000011.8:g.69340079dup	NCBI36
NG_009016.1:g.8051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.270dup MANE Select	ENSP00000334122.2:p.Leu91SerfsTer?
ENST00000646078.1:n.117dup
ENST00000334134.2:c.270dup	ENSP00000334122.2:p.Leu91SerfsTer?
NM_005247.2:c.270dup	NP_005238.1:p.Leu91SerfsTer?
NM_005247.3:c.270dup	NP_005238.1:p.Leu91SerfsTer?
NM_005247.4:c.270dup MANE Select	NP_005238.1:p.Leu91SerfsTer?