Canonical Allele Identifier: CA16620063
Gene: IGF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 418254
ClinVar RCV Id: RCV000478317
dbSNP Id: rs1064793151

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707790del , CM000677.2:g.98707790del GRCh38
NC_000015.9:g.99251019del , CM000677.1:g.99251019del GRCh37
NC_000015.8:g.97068542del NCBI36
NG_009492.1:g.63259del

Transcript Alleles

HGVS Amino-acid change
ENST00000649865.1:c.323del ENSP00000496919.1:p.Gly108AlafsTer15
ENST00000650285.1:c.323del MANE Select ENSP00000497069.1:p.Gly108AlafsTer15
ENST00000268035.10:c.323del ENSP00000268035.6:p.Gly108AlafsTer15
ENST00000558762.5:c.323del ENSP00000453007.1:p.Gly108AlafsTer15
ENST00000559925.5:n.323del
NM_000875.4:c.323del NP_000866.1:p.Gly108AlafsTer15
NM_001291858.1:c.323del NP_001278787.1:p.Gly108AlafsTer15
XM_011521513.1:c.323del XP_011519815.1:p.Gly108AlafsTer15
XM_011521514.1:c.323del XP_011519816.1:p.Gly108AlafsTer15
XM_011521515.1:c.323del XP_011519817.1:p.Gly108AlafsTer15
XM_017022136.1:c.398del XP_016877625.1:p.Gly133AlafsTer15
XM_017022137.1:c.398del XP_016877626.1:p.Gly133AlafsTer15
XM_017022138.1:c.398del XP_016877627.1:p.Gly133AlafsTer15
XM_017022139.1:c.-41del XP_016877628.1:n.-41del
NM_000875.5:c.323del MANE Select NP_000866.1:p.Gly108AlafsTer15
NM_001291858.2:c.323del NP_001278787.1:p.Gly108AlafsTer15