Canonical Allele Identifier: CA838948870
Gene: IGFBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1275843215
gnomAD v3: 7-45913591-AAT-A
gnomAD v4: 7-45913591-AAT-A
MyVariant Identifiers: chr7:g.45953191_45953192del (hg19) chr7:g.45913592_45913593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45913594_45913595del , CM000669.2:g.45913594_45913595del GRCh38
NC_000007.13:g.45953193_45953194del , CM000669.1:g.45953193_45953194del GRCh37
NC_000007.12:g.45919718_45919719del NCBI36
NG_011508.1:g.12680_12681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613132.5:c.*257_*258del MANE Select ENSP00000477772.2:n.*257_*258del
ENST00000381083.9:c.*257_*258del ENSP00000370473.4:n.*257_*258del
ENST00000275521.10:c.*257_*258del ENSP00000275521.5:n.*257_*258del
ENST00000381086.9:c.*257_*258del ENSP00000370476.4:n.*257_*258del
ENST00000613132.4:c.1070_1071del ENSP00000477772.1:n.1070_1071del
NM_000598.4:c.*257_*258del NP_000589.2:n.*257_*258del
NM_001013398.1:c.*257_*258del NP_001013416.1:n.*257_*258del
NM_001013398.2:c.*257_*258del NP_001013416.1:n.*257_*258del
NM_000598.5:c.*257_*258del MANE Select NP_000589.2:n.*257_*258del
Search 100 bp 5'
Search 100 bp 3'