Canonical Allele Identifier: CA645372891

Gene: INS INS-IGF2

Linked Data

• ClinVar Variation Id: 435510
• ClinVar RCV Id: RCV000499487 ; RCV002464227
• dbSNP Id: rs1554920552
• MyVariant Identifiers: chr11:g.2181090_2181092del (hg19) ; chr11:g.2159860_2159862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2159863_2159865del , CM000673.2:g.2159863_2159865del	GRCh38
NC_000011.9:g.2181093_2181095del , CM000673.1:g.2181093_2181095del	GRCh37
NC_000011.8:g.2137669_2137671del	NCBI36
NG_007114.1:g.6333_6335del
NG_050578.1:g.6348_6350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381330.5:c.323_325del (INS) MANE Select	ENSP00000370731.5:p.Tyr108del
ENST00000250971.7:c.323_325del (INS)	ENSP00000250971.3:p.Tyr108del
ENST00000356578.8:c.187+923_187+925del (INS-IGF2)	ENSP00000348986.4:n.187+923_187+925del
ENST00000381330.4:c.323_325del (INS)	ENSP00000370731.4:p.Tyr108del
ENST00000397262.5:c.323_325del (INS)	ENSP00000380432.1:p.Tyr108del
ENST00000397270.1:c.187+923_187+925del (INS-IGF2)	ENSP00000380440.1:n.187+923_187+925del
ENST00000421783.1:c.198_200del (INS)	ENSP00000408400.1:p.Leu67del
ENST00000512523.1:c.287_289del (INS)	ENSP00000424008.1:p.Tyr96del
NM_000207.2:c.323_325del (INS)	NP_000198.1:p.Tyr108del
NM_001042376.2:c.187+923_187+925del (INS-IGF2)	NP_001035835.1:n.187+923_187+925del
NM_001185097.1:c.323_325del (INS)	NP_001172026.1:p.Tyr108del
NM_001185098.1:c.323_325del (INS)	NP_001172027.1:p.Tyr108del
NM_001291897.1:c.323_325del (INS)	NP_001278826.1:p.Tyr108del
NR_003512.3:n.246+923_246+925del (INS-IGF2)
NM_000207.3:c.323_325del (INS) MANE Select	NP_000198.1:p.Tyr108del
NM_001042376.3:c.187+923_187+925del (INS-IGF2)	NP_001035835.1:n.187+923_187+925del
NM_001185097.2:c.323_325del (INS)	NP_001172026.1:p.Tyr108del
NM_001291897.2:c.323_325del (INS)	NP_001278826.1:p.Tyr108del
NR_003512.4:n.246+923_246+925del (INS-IGF2)
NM_001185098.2:c.323_325del (INS)	NP_001172027.1:p.Tyr108del