Canonical Allele Identifier: CA5818130

Gene: INS INS-IGF2

Linked Data

• dbSNP Id: rs757595587
• ExAC: 11:2181173 G / A
• gnomAD v2: 11-2181173-G-A
• gnomAD v4: 11-2159943-G-A
• MyVariant Identifiers: chr11:g.2181173G>A (hg19) ; chr11:g.2159943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2159943G>A , CM000673.2:g.2159943G>A	GRCh38
NC_000011.9:g.2181173G>A , CM000673.1:g.2181173G>A	GRCh37
NC_000011.8:g.2137749G>A	NCBI36
NG_007114.1:g.6252C>T
NG_050578.1:g.6267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381330.5:c.242C>T (INS) MANE Select	ENSP00000370731.5:p.Ala81Val
ENST00000250971.7:c.242C>T (INS)	ENSP00000250971.3:p.Ala81Val
ENST00000356578.8:c.187+842C>T (INS-IGF2)	ENSP00000348986.4:n.187+842C>T
ENST00000381330.4:c.242C>T (INS)	ENSP00000370731.4:p.Ala81Val
ENST00000397262.5:c.242C>T (INS)	ENSP00000380432.1:p.Ala81Val
ENST00000397270.1:c.187+842C>T (INS-IGF2)	ENSP00000380440.1:n.187+842C>T
ENST00000421783.1:c.188-71C>T (INS)	ENSP00000408400.1:n.188-71C>T
ENST00000512523.1:c.206C>T (INS)	ENSP00000424008.1:p.Ala69Val
NM_000207.2:c.242C>T (INS)	NP_000198.1:p.Ala81Val
NM_001042376.2:c.187+842C>T (INS-IGF2)	NP_001035835.1:n.187+842C>T
NM_001185097.1:c.242C>T (INS)	NP_001172026.1:p.Ala81Val
NM_001185098.1:c.242C>T (INS)	NP_001172027.1:p.Ala81Val
NM_001291897.1:c.242C>T (INS)	NP_001278826.1:p.Ala81Val
NR_003512.3:n.246+842C>T (INS-IGF2)
NM_000207.3:c.242C>T (INS) MANE Select	NP_000198.1:p.Ala81Val
NM_001042376.3:c.187+842C>T (INS-IGF2)	NP_001035835.1:n.187+842C>T
NM_001185097.2:c.242C>T (INS)	NP_001172026.1:p.Ala81Val
NM_001291897.2:c.242C>T (INS)	NP_001278826.1:p.Ala81Val
NR_003512.4:n.246+842C>T (INS-IGF2)
NM_001185098.2:c.242C>T (INS)	NP_001172027.1:p.Ala81Val