Canonical Allele Identifier: CA7752097

Gene: IGF1R

Linked Data

• dbSNP Id: rs778601597
• ExAC: 15:99452167 CATG / C
• gnomAD v4: 15-98908938-CATG-C
• MyVariant Identifiers: chr15:g.99452168_99452170del (hg19) ; chr15:g.98908939_98908941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908941_98908943del , CM000677.2:g.98908941_98908943del	GRCh38
NC_000015.9:g.99452170_99452172del , CM000677.1:g.99452170_99452172del	GRCh37
NC_000015.8:g.97269693_97269695del	NCBI36
NG_009492.1:g.264410_264412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1462+42_1462+44del	ENSP00000496919.1:n.1462+42_1462+44del
ENST00000650285.1:c.1462+42_1462+44del MANE Select	ENSP00000497069.1:n.1462+42_1462+44del
ENST00000268035.10:c.1462+42_1462+44del	ENSP00000268035.6:n.1462+42_1462+44del
ENST00000558762.5:c.1462+42_1462+44del	ENSP00000453007.1:n.1462+42_1462+44del
ENST00000558898.1:c.553+42_553+44del	ENSP00000454115.1:n.553+42_553+44del
ENST00000559582.1:n.369+42_369+44del
ENST00000559925.5:n.1462+42_1462+44del
NM_000875.4:c.1462+42_1462+44del	NP_000866.1:n.1462+42_1462+44del
NM_001291858.1:c.1462+42_1462+44del	NP_001278787.1:n.1462+42_1462+44del
XM_011521513.1:c.1525+42_1525+44del	XP_011519815.1:n.1525+42_1525+44del
XM_011521514.1:c.1525+42_1525+44del	XP_011519816.1:n.1525+42_1525+44del
XM_011521515.1:c.1525+42_1525+44del	XP_011519817.1:n.1525+42_1525+44del
XM_011521516.1:c.553+42_553+44del	XP_011519818.1:n.553+42_553+44del
XM_011521517.1:c.127+42_127+44del	XP_011519819.1:n.127+42_127+44del
XM_011521516.2:c.553+42_553+44del	XP_011519818.1:n.553+42_553+44del
XM_011521517.2:c.127+42_127+44del	XP_011519819.1:n.127+42_127+44del
XM_017022136.1:c.1537+42_1537+44del	XP_016877625.1:n.1537+42_1537+44del
XM_017022137.1:c.1537+42_1537+44del	XP_016877626.1:n.1537+42_1537+44del
XM_017022138.1:c.1537+42_1537+44del	XP_016877627.1:n.1537+42_1537+44del
XM_017022139.1:c.1099+42_1099+44del	XP_016877628.1:n.1099+42_1099+44del
XM_024449913.1:c.553+42_553+44del	XP_024305681.1:n.553+42_553+44del
NM_000875.5:c.1462+42_1462+44del MANE Select	NP_000866.1:n.1462+42_1462+44del
NM_001291858.2:c.1462+42_1462+44del	NP_001278787.1:n.1462+42_1462+44del