Canonical Allele Identifier: CA2611973607
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2148979-GCTTCCCTGCACCCTCCAGCAGCAGAAGTT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148986_2149014del , CM000673.2:g.2148986_2149014del GRCh38
NC_000011.9:g.2170216_2170244del , CM000673.1:g.2170216_2170244del GRCh37
NC_000011.8:g.2126792_2126820del NCBI36
NG_008849.1:g.5596_5624del
NG_050578.1:g.17202_17230del

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+118_-249+146del (IGF2) ENSP00000511998.1:n.-249+118_-249+146del
ENST00000643349.2:c.254+118_254+146del ENSP00000495715.1:n.254+118_254+146del
ENST00000695541.1:c.-249+118_-249+146del (IGF2) ENSP00000511997.1:n.-249+118_-249+146del
ENST00000481781.2:n.345+118_345+146del
ENST00000643349.1:c.254+118_254+146del ENSP00000495715.1:n.254+118_254+146del
ENST00000356578.8:c.407+118_407+146del (INS-IGF2) ENSP00000348986.4:n.407+118_407+146del
ENST00000397270.1:c.407+118_407+146del (INS-IGF2) ENSP00000380440.1:n.407+118_407+146del
ENST00000476874.1:n.408_436del (INS-IGF2)
ENST00000481781.1:n.612+118_612+146del (INS-IGF2)
NM_001007139.5:c.-249+118_-249+146del (IGF2) NP_001007140.2:n.-249+118_-249+146del
NM_001042376.2:c.407+118_407+146del (INS-IGF2) NP_001035835.1:n.407+118_407+146del
NR_003512.3:n.466+118_466+146del (INS-IGF2)
NM_001042376.3:c.407+118_407+146del (INS-IGF2) NP_001035835.1:n.407+118_407+146del
NR_003512.4:n.466+118_466+146del (INS-IGF2)
NM_001007139.6:c.-249+118_-249+146del (IGF2) NP_001007140.2:n.-249+118_-249+146del
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