Canonical Allele Identifier: CA2611972366
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2148814-TAGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148815_2148818del , CM000673.2:g.2148815_2148818del GRCh38
NC_000011.9:g.2170045_2170048del , CM000673.1:g.2170045_2170048del GRCh37
NC_000011.8:g.2126621_2126624del NCBI36
NG_008849.1:g.5786_5789del
NG_050578.1:g.17392_17395del

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+308_-249+311del (IGF2) ENSP00000511998.1:n.-249+308_-249+311del
ENST00000643349.2:c.254+308_254+311del ENSP00000495715.1:n.254+308_254+311del
ENST00000695541.1:c.-249+308_-249+311del (IGF2) ENSP00000511997.1:n.-249+308_-249+311del
ENST00000481781.2:n.345+308_345+311del
ENST00000643349.1:c.254+308_254+311del ENSP00000495715.1:n.254+308_254+311del
ENST00000356578.8:c.407+308_407+311del (INS-IGF2) ENSP00000348986.4:n.407+308_407+311del
ENST00000397270.1:c.407+308_407+311del (INS-IGF2) ENSP00000380440.1:n.407+308_407+311del
ENST00000481781.1:n.612+308_612+311del (INS-IGF2)
NM_001007139.5:c.-249+308_-249+311del (IGF2) NP_001007140.2:n.-249+308_-249+311del
NM_001042376.2:c.407+308_407+311del (INS-IGF2) NP_001035835.1:n.407+308_407+311del
NR_003512.3:n.466+308_466+311del (INS-IGF2)
NM_001042376.3:c.407+308_407+311del (INS-IGF2) NP_001035835.1:n.407+308_407+311del
NR_003512.4:n.466+308_466+311del (INS-IGF2)
NM_001007139.6:c.-249+308_-249+311del (IGF2) NP_001007140.2:n.-249+308_-249+311del
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