Canonical Allele Identifier: CA5818134
Gene: INS HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

dbSNP Id: rs780264600
gnomAD v2: 11-2181203-C-A
gnomAD v3: 11-2159973-C-A
gnomAD v4: 11-2159973-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159973C>A , CM000673.2:g.2159973C>A GRCh38
NC_000011.9:g.2181203C>A , CM000673.1:g.2181203C>A GRCh37
NC_000011.8:g.2137779C>A NCBI36
NG_007114.1:g.6222G>T
NG_050578.1:g.6237G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381330.5:c.212G>T (INS) MANE Select ENSP00000370731.5:p.Gly71Val
ENST00000250971.7:c.212G>T (INS) ENSP00000250971.3:p.Gly71Val
ENST00000356578.8:c.187+812G>T (INS-IGF2) ENSP00000348986.4:n.187+812G>T
ENST00000381330.4:c.212G>T (INS) ENSP00000370731.4:p.Gly71Val
ENST00000397262.5:c.212G>T (INS) ENSP00000380432.1:p.Gly71Val
ENST00000397270.1:c.187+812G>T (INS-IGF2) ENSP00000380440.1:n.187+812G>T
ENST00000421783.1:c.188-101G>T (INS) ENSP00000408400.1:n.188-101G>T
ENST00000512523.1:c.188-12G>T (INS) ENSP00000424008.1:n.188-12G>T
NM_000207.2:c.212G>T (INS) NP_000198.1:p.Gly71Val
NM_001042376.2:c.187+812G>T (INS-IGF2) NP_001035835.1:n.187+812G>T
NM_001185097.1:c.212G>T (INS) NP_001172026.1:p.Gly71Val
NM_001185098.1:c.212G>T (INS) NP_001172027.1:p.Gly71Val
NM_001291897.1:c.212G>T (INS) NP_001278826.1:p.Gly71Val
NR_003512.3:n.246+812G>T (INS-IGF2)
NM_000207.3:c.212G>T (INS) MANE Select NP_000198.1:p.Gly71Val
NM_001042376.3:c.187+812G>T (INS-IGF2) NP_001035835.1:n.187+812G>T
NM_001185097.2:c.212G>T (INS) NP_001172026.1:p.Gly71Val
NM_001291897.2:c.212G>T (INS) NP_001278826.1:p.Gly71Val
NR_003512.4:n.246+812G>T (INS-IGF2)
NM_001185098.2:c.212G>T (INS) NP_001172027.1:p.Gly71Val