Canonical Allele Identifier: CA2695221201

Gene: IGF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908895del , CM000677.2:g.98908895del	GRCh38
NC_000015.9:g.99452124del , CM000677.1:g.99452124del	GRCh37
NC_000015.8:g.97269647del	NCBI36
NG_009492.1:g.264364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1458del	ENSP00000496919.1:p.Ser487ProfsTer21
ENST00000650285.1:c.1458del MANE Select	ENSP00000497069.1:p.Ser487ProfsTer21
ENST00000268035.10:c.1458del	ENSP00000268035.6:p.Ser487ProfsTer21
ENST00000558762.5:c.1458del	ENSP00000453007.1:p.Ser487ProfsTer21
ENST00000558898.1:c.549del	ENSP00000454115.1:p.Ser184ProfsTer21
ENST00000559582.1:n.365del
ENST00000559925.5:n.1458del
NM_000875.4:c.1458del	NP_000866.1:p.Ser487ProfsTer21
NM_001291858.1:c.1458del	NP_001278787.1:p.Ser487ProfsTer21
XM_011521513.1:c.1521del	XP_011519815.1:p.Ser508ProfsTer21
XM_011521514.1:c.1521del	XP_011519816.1:p.Ser508ProfsTer21
XM_011521515.1:c.1521del	XP_011519817.1:p.Ser508ProfsTer21
XM_011521516.1:c.549del	XP_011519818.1:p.Ser184ProfsTer21
XM_011521517.1:c.123del	XP_011519819.1:p.Ser42ProfsTer21
XM_011521516.2:c.549del	XP_011519818.1:p.Ser184ProfsTer21
XM_011521517.2:c.123del	XP_011519819.1:p.Ser42ProfsTer21
XM_017022136.1:c.1533del	XP_016877625.1:p.Ser512ProfsTer21
XM_017022137.1:c.1533del	XP_016877626.1:p.Ser512ProfsTer21
XM_017022138.1:c.1533del	XP_016877627.1:p.Ser512ProfsTer21
XM_017022139.1:c.1095del	XP_016877628.1:p.Ser366ProfsTer21
XM_024449913.1:c.549del	XP_024305681.1:p.Ser184ProfsTer21
NM_000875.5:c.1458del MANE Select	NP_000866.1:p.Ser487ProfsTer21
NM_001291858.2:c.1458del	NP_001278787.1:p.Ser487ProfsTer21