Canonical Allele Identifier: CA5818180

Gene: INS INS-IGF2

Linked Data

• dbSNP Id: rs202244834
• ExAC: 11:2182044 T / G
• gnomAD v3: 11-2160814-T-G
• gnomAD v4: 11-2160814-T-G
• MyVariant Identifiers: chr11:g.2182044T>G (hg19) ; chr11:g.2160814T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2160814T>G , CM000673.2:g.2160814T>G	GRCh38
NC_000011.9:g.2182044T>G , CM000673.1:g.2182044T>G	GRCh37
NC_000011.8:g.2138620T>G	NCBI36
NG_007114.1:g.5381A>C
NG_050578.1:g.5396A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381330.5:c.158A>C (INS) MANE Select	ENSP00000370731.5:p.Lys53Thr
ENST00000250971.7:c.158A>C (INS)	ENSP00000250971.3:p.Lys53Thr
ENST00000356578.8:c.158A>C (INS-IGF2)	ENSP00000348986.4:p.Lys53Thr
ENST00000381330.4:c.158A>C (INS)	ENSP00000370731.4:p.Lys53Thr
ENST00000397262.5:c.158A>C (INS)	ENSP00000380432.1:p.Lys53Thr
ENST00000397270.1:c.158A>C (INS-IGF2)	ENSP00000380440.1:p.Lys53Thr
ENST00000421783.1:c.158A>C (INS)	ENSP00000408400.1:p.Lys53Thr
ENST00000512523.1:c.158A>C (INS)	ENSP00000424008.1:p.Lys53Thr
NM_000207.2:c.158A>C (INS)	NP_000198.1:p.Lys53Thr
NM_001042376.2:c.158A>C (INS-IGF2)	NP_001035835.1:p.Lys53Thr
NM_001185097.1:c.158A>C (INS)	NP_001172026.1:p.Lys53Thr
NM_001185098.1:c.158A>C (INS)	NP_001172027.1:p.Lys53Thr
NM_001291897.1:c.158A>C (INS)	NP_001278826.1:p.Lys53Thr
NR_003512.3:n.217A>C (INS-IGF2)
NM_000207.3:c.158A>C (INS) MANE Select	NP_000198.1:p.Lys53Thr
NM_001042376.3:c.158A>C (INS-IGF2)	NP_001035835.1:p.Lys53Thr
NM_001185097.2:c.158A>C (INS)	NP_001172026.1:p.Lys53Thr
NM_001291897.2:c.158A>C (INS)	NP_001278826.1:p.Lys53Thr
NR_003512.4:n.217A>C (INS-IGF2)
NM_001185098.2:c.158A>C (INS)	NP_001172027.1:p.Lys53Thr