Canonical Allele Identifier: CA379121053

Gene: INS INS-IGF2

Linked Data

• gnomAD v4: 11-2159995-C-A
• COSMIC: COSM5791549
• MyVariant Identifiers: chr11:g.2181225C>A (hg19) ; chr11:g.2159995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2159995C>A , CM000673.2:g.2159995C>A	GRCh38
NC_000011.9:g.2181225C>A , CM000673.1:g.2181225C>A	GRCh37
NC_000011.8:g.2137801C>A	NCBI36
NG_007114.1:g.6200G>T
NG_050578.1:g.6215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381330.5:c.190G>T (INS) MANE Select	ENSP00000370731.5:p.Gly64Trp
ENST00000250971.7:c.190G>T (INS)	ENSP00000250971.3:p.Gly64Trp
ENST00000356578.8:c.187+790G>T (INS-IGF2)	ENSP00000348986.4:n.187+790G>T
ENST00000381330.4:c.190G>T (INS)	ENSP00000370731.4:p.Gly64Trp
ENST00000397262.5:c.190G>T (INS)	ENSP00000380432.1:p.Gly64Trp
ENST00000397270.1:c.187+790G>T (INS-IGF2)	ENSP00000380440.1:n.187+790G>T
ENST00000421783.1:c.188-123G>T (INS)	ENSP00000408400.1:n.188-123G>T
ENST00000512523.1:c.188-34G>T (INS)	ENSP00000424008.1:n.188-34G>T
NM_000207.2:c.190G>T (INS)	NP_000198.1:p.Gly64Trp
NM_001042376.2:c.187+790G>T (INS-IGF2)	NP_001035835.1:n.187+790G>T
NM_001185097.1:c.190G>T (INS)	NP_001172026.1:p.Gly64Trp
NM_001185098.1:c.190G>T (INS)	NP_001172027.1:p.Gly64Trp
NM_001291897.1:c.190G>T (INS)	NP_001278826.1:p.Gly64Trp
NR_003512.3:n.246+790G>T (INS-IGF2)
NM_000207.3:c.190G>T (INS) MANE Select	NP_000198.1:p.Gly64Trp
NM_001042376.3:c.187+790G>T (INS-IGF2)	NP_001035835.1:n.187+790G>T
NM_001185097.2:c.190G>T (INS)	NP_001172026.1:p.Gly64Trp
NM_001291897.2:c.190G>T (INS)	NP_001278826.1:p.Gly64Trp
NR_003512.4:n.246+790G>T (INS-IGF2)
NM_001185098.2:c.190G>T (INS)	NP_001172027.1:p.Gly64Trp