Canonical Allele Identifier: CA7751789

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 593836
• ClinVar RCV Id: RCV000728990
• dbSNP Id: rs746570875
• ExAC: 15:99251108 C / CG
• MyVariant Identifiers: chr15:g.99251109_99251110insG (hg19) ; chr15:g.99251108_99251109insG (hg19) ; chr15:g.98707879_98707880insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707885dup , CM000677.2:g.98707885dup	GRCh38
NC_000015.9:g.99251114dup , CM000677.1:g.99251114dup	GRCh37
NC_000015.8:g.97068637dup	NCBI36
NG_009492.1:g.63354dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.418dup	ENSP00000496919.1:p.Ala140GlyfsTer5
ENST00000650285.1:c.418dup MANE Select	ENSP00000497069.1:p.Ala140GlyfsTer5
ENST00000268035.10:c.418dup	ENSP00000268035.6:p.Ala140GlyfsTer5
ENST00000558355.1:c.55dup	ENSP00000453630.1:p.Ala19GlyfsTer5
ENST00000558762.5:c.418dup	ENSP00000453007.1:p.Ala140GlyfsTer5
ENST00000559925.5:n.418dup
NM_000875.4:c.418dup	NP_000866.1:p.Ala140GlyfsTer5
NM_001291858.1:c.418dup	NP_001278787.1:p.Ala140GlyfsTer5
XM_011521513.1:c.418dup	XP_011519815.1:p.Ala140GlyfsTer5
XM_011521514.1:c.418dup	XP_011519816.1:p.Ala140GlyfsTer5
XM_011521515.1:c.418dup	XP_011519817.1:p.Ala140GlyfsTer5
XM_017022136.1:c.493dup	XP_016877625.1:p.Ala165GlyfsTer5
XM_017022137.1:c.493dup	XP_016877626.1:p.Ala165GlyfsTer5
XM_017022138.1:c.493dup	XP_016877627.1:p.Ala165GlyfsTer5
XM_017022139.1:c.55dup	XP_016877628.1:p.Ala19GlyfsTer5
NM_000875.5:c.418dup MANE Select	NP_000866.1:p.Ala140GlyfsTer5
NM_001291858.2:c.418dup	NP_001278787.1:p.Ala140GlyfsTer5