Canonical Allele Identifier: CA379120929
Gene: INS HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159932A>G , CM000673.2:g.2159932A>G GRCh38
NC_000011.9:g.2181162A>G , CM000673.1:g.2181162A>G GRCh37
NC_000011.8:g.2137738A>G NCBI36
NG_007114.1:g.6263T>C
NG_050578.1:g.6278T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381330.5:c.253T>C (INS) MANE Select ENSP00000370731.5:p.Ser85Pro
ENST00000250971.7:c.253T>C (INS) ENSP00000250971.3:p.Ser85Pro
ENST00000356578.8:c.187+853T>C (INS-IGF2) ENSP00000348986.4:n.187+853T>C
ENST00000381330.4:c.253T>C (INS) ENSP00000370731.4:p.Ser85Pro
ENST00000397262.5:c.253T>C (INS) ENSP00000380432.1:p.Ser85Pro
ENST00000397270.1:c.187+853T>C (INS-IGF2) ENSP00000380440.1:n.187+853T>C
ENST00000421783.1:c.188-60T>C (INS) ENSP00000408400.1:n.188-60T>C
ENST00000512523.1:c.217T>C (INS) ENSP00000424008.1:p.Ser73Pro
NM_000207.2:c.253T>C (INS) NP_000198.1:p.Ser85Pro
NM_001042376.2:c.187+853T>C (INS-IGF2) NP_001035835.1:n.187+853T>C
NM_001185097.1:c.253T>C (INS) NP_001172026.1:p.Ser85Pro
NM_001185098.1:c.253T>C (INS) NP_001172027.1:p.Ser85Pro
NM_001291897.1:c.253T>C (INS) NP_001278826.1:p.Ser85Pro
NR_003512.3:n.246+853T>C (INS-IGF2)
NM_000207.3:c.253T>C (INS) MANE Select NP_000198.1:p.Ser85Pro
NM_001042376.3:c.187+853T>C (INS-IGF2) NP_001035835.1:n.187+853T>C
NM_001185097.2:c.253T>C (INS) NP_001172026.1:p.Ser85Pro
NM_001291897.2:c.253T>C (INS) NP_001278826.1:p.Ser85Pro
NR_003512.4:n.246+853T>C (INS-IGF2)
NM_001185098.2:c.253T>C (INS) NP_001172027.1:p.Ser85Pro