Canonical Allele Identifier: CA1139661743
Community Standard Title: NM_000207.3(INS):c.174del (p.Glu59ArgfsTer?)
Gene: INS HGNC NCBI
INS-IGF2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2160798del , CM000673.2:g.2160798del GRCh38
NC_000011.9:g.2182028del , CM000673.1:g.2182028del GRCh37
NC_000011.8:g.2138604del NCBI36
NG_007114.1:g.5397del
NG_050578.1:g.5412del

Transcript Alleles

HGVS Amino-acid Change
NM_000207.3:c.174del (INS) MANE Select NP_000198.1:p.Glu59ArgfsTer?
ENST00000381330.5:c.174del (INS) MANE Select ENSP00000370731.5:p.Glu59ArgfsTer?
NM_000207.2:c.174del (INS) NP_000198.1:p.Glu59ArgfsTer?
NM_001042376.2:c.174del (INS-IGF2) NP_001035835.1:p.Glu59ArgfsTer?
NM_001042376.3:c.174del (INS-IGF2) NP_001035835.1:p.Glu59ArgfsTer?
NM_001185097.1:c.174del (INS) NP_001172026.1:p.Glu59ArgfsTer?
NM_001185097.2:c.174del (INS) NP_001172026.1:p.Glu59ArgfsTer?
NM_001185098.1:c.174del (INS) NP_001172027.1:p.Glu59ArgfsTer?
NM_001185098.2:c.174del (INS) NP_001172027.1:p.Glu59ArgfsTer?
NM_001291897.1:c.174del (INS) NP_001278826.1:p.Glu59ArgfsTer?
NM_001291897.2:c.174del (INS) NP_001278826.1:p.Glu59ArgfsTer?
NR_003512.3:n.233del (INS-IGF2)
NR_003512.4:n.233del (INS-IGF2)
ENST00000250971.7:c.174del (INS) ENSP00000250971.3:p.Glu59ArgfsTer?
ENST00000356578.8:c.174del (INS-IGF2) ENSP00000348986.4:p.Glu59ArgfsTer?
ENST00000381330.4:c.174del (INS) ENSP00000370731.4:p.Glu59ArgfsTer?
ENST00000397262.5:c.174del (INS) ENSP00000380432.1:p.Glu59ArgfsTer?
ENST00000397270.1:c.174del (INS-IGF2) ENSP00000380440.1:p.Glu59ArgfsTer?
ENST00000421783.1:c.174del (INS) ENSP00000408400.1:p.Glu59ArgfsTer11
ENST00000512523.1:c.174del (INS) ENSP00000424008.1:p.Glu59ArgfsTer?
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