Canonical Allele Identifier: CA16609271
Gene: INS HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 393455
ClinVar RCV Id: RCV000445381
dbSNP Id: rs1057524907
MyVariant Identifiers: chr11:g.2181137T>C (hg19) chr11:g.2159907T>C (hg38)
PubMed: PMID:17855560 PMID:18162506 PMID:18192540 PMID:20226046 PMID:25542748
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159907T>C , CM000673.2:g.2159907T>C GRCh38
NC_000011.9:g.2181137T>C , CM000673.1:g.2181137T>C GRCh37
NC_000011.8:g.2137713T>C NCBI36
NG_007114.1:g.6288A>G
NG_050578.1:g.6303A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381330.5:c.278A>G (INS) MANE Select ENSP00000370731.5:p.Glu93Gly
ENST00000250971.7:c.278A>G (INS) ENSP00000250971.3:p.Glu93Gly
ENST00000356578.8:c.187+878A>G (INS-IGF2) ENSP00000348986.4:n.187+878A>G
ENST00000381330.4:c.278A>G (INS) ENSP00000370731.4:p.Glu93Gly
ENST00000397262.5:c.278A>G (INS) ENSP00000380432.1:p.Glu93Gly
ENST00000397270.1:c.187+878A>G (INS-IGF2) ENSP00000380440.1:n.187+878A>G
ENST00000421783.1:c.188-35A>G (INS) ENSP00000408400.1:n.188-35A>G
ENST00000512523.1:c.242A>G (INS) ENSP00000424008.1:p.Glu81Gly
NM_000207.2:c.278A>G (INS) NP_000198.1:p.Glu93Gly
NM_001042376.2:c.187+878A>G (INS-IGF2) NP_001035835.1:n.187+878A>G
NM_001185097.1:c.278A>G (INS) NP_001172026.1:p.Glu93Gly
NM_001185098.1:c.278A>G (INS) NP_001172027.1:p.Glu93Gly
NM_001291897.1:c.278A>G (INS) NP_001278826.1:p.Glu93Gly
NR_003512.3:n.246+878A>G (INS-IGF2)
NM_000207.3:c.278A>G (INS) MANE Select NP_000198.1:p.Glu93Gly
NM_001042376.3:c.187+878A>G (INS-IGF2) NP_001035835.1:n.187+878A>G
NM_001185097.2:c.278A>G (INS) NP_001172026.1:p.Glu93Gly
NM_001291897.2:c.278A>G (INS) NP_001278826.1:p.Glu93Gly
NR_003512.4:n.246+878A>G (INS-IGF2)
NM_001185098.2:c.278A>G (INS) NP_001172027.1:p.Glu93Gly
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