Canonical Allele Identifier: CA2575843978
Gene: IGF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908968_98908969del , CM000677.2:g.98908968_98908969del GRCh38
NC_000015.9:g.99452197_99452198del , CM000677.1:g.99452197_99452198del GRCh37
NC_000015.8:g.97269720_97269721del NCBI36
NG_009492.1:g.264437_264438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1462+69_1462+70del ENSP00000496919.1:n.1462+69_1462+70del
ENST00000650285.1:c.1462+69_1462+70del MANE Select ENSP00000497069.1:n.1462+69_1462+70del
ENST00000268035.10:c.1462+69_1462+70del ENSP00000268035.6:n.1462+69_1462+70del
ENST00000558762.5:c.1462+69_1462+70del ENSP00000453007.1:n.1462+69_1462+70del
ENST00000558898.1:c.553+69_553+70del ENSP00000454115.1:n.553+69_553+70del
ENST00000559582.1:n.369+69_369+70del
ENST00000559925.5:n.1462+69_1462+70del
NM_000875.4:c.1462+69_1462+70del NP_000866.1:n.1462+69_1462+70del
NM_001291858.1:c.1462+69_1462+70del NP_001278787.1:n.1462+69_1462+70del
XM_011521513.1:c.1525+69_1525+70del XP_011519815.1:n.1525+69_1525+70del
XM_011521514.1:c.1525+69_1525+70del XP_011519816.1:n.1525+69_1525+70del
XM_011521515.1:c.1525+69_1525+70del XP_011519817.1:n.1525+69_1525+70del
XM_011521516.1:c.553+69_553+70del XP_011519818.1:n.553+69_553+70del
XM_011521517.1:c.127+69_127+70del XP_011519819.1:n.127+69_127+70del
XM_011521516.2:c.553+69_553+70del XP_011519818.1:n.553+69_553+70del
XM_011521517.2:c.127+69_127+70del XP_011519819.1:n.127+69_127+70del
XM_017022136.1:c.1537+69_1537+70del XP_016877625.1:n.1537+69_1537+70del
XM_017022137.1:c.1537+69_1537+70del XP_016877626.1:n.1537+69_1537+70del
XM_017022138.1:c.1537+69_1537+70del XP_016877627.1:n.1537+69_1537+70del
XM_017022139.1:c.1099+69_1099+70del XP_016877628.1:n.1099+69_1099+70del
XM_024449913.1:c.553+69_553+70del XP_024305681.1:n.553+69_553+70del
NM_000875.5:c.1462+69_1462+70del MANE Select NP_000866.1:n.1462+69_1462+70del
NM_001291858.2:c.1462+69_1462+70del NP_001278787.1:n.1462+69_1462+70del