Canonical Allele Identifier: CA2630561971
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707807_98707812del , CM000677.2:g.98707807_98707812del GRCh38
NC_000015.9:g.99251036_99251041del , CM000677.1:g.99251036_99251041del GRCh37
NC_000015.8:g.97068559_97068564del NCBI36
NG_009492.1:g.63276_63281del

Transcript Alleles

HGVS Amino-acid change
ENST00000649865.1:c.340_345del ENSP00000496919.1:p.Asn114_Tyr115del
ENST00000650285.1:c.340_345del MANE Select ENSP00000497069.1:p.Asn114_Tyr115del
ENST00000268035.10:c.340_345del ENSP00000268035.6:p.Asn114_Tyr115del
ENST00000558762.5:c.340_345del ENSP00000453007.1:p.Asn114_Tyr115del
ENST00000559925.5:n.340_345del
NM_000875.4:c.340_345del NP_000866.1:p.Asn114_Tyr115del
NM_001291858.1:c.340_345del NP_001278787.1:p.Asn114_Tyr115del
XM_011521513.1:c.340_345del XP_011519815.1:p.Asn114_Tyr115del
XM_011521514.1:c.340_345del XP_011519816.1:p.Asn114_Tyr115del
XM_011521515.1:c.340_345del XP_011519817.1:p.Asn114_Tyr115del
XM_017022136.1:c.415_420del XP_016877625.1:p.Asn139_Tyr140del
XM_017022137.1:c.415_420del XP_016877626.1:p.Asn139_Tyr140del
XM_017022138.1:c.415_420del XP_016877627.1:p.Asn139_Tyr140del
XM_017022139.1:c.-24_-19del XP_016877628.1:n.-24_-19del
NM_000875.5:c.340_345del MANE Select NP_000866.1:p.Asn114_Tyr115del
NM_001291858.2:c.340_345del NP_001278787.1:p.Asn114_Tyr115del