Canonical Allele Identifier: CA574248622

Gene: IGFBP3

Linked Data

• dbSNP Id: rs1363626440
• gnomAD v2: 7-45953176-TGCTCGA-T
• gnomAD v3: 7-45913577-TGCTCGA-T
• gnomAD v4: 7-45913577-TGCTCGA-T
• MyVariant Identifiers: chr7:g.45953177_45953182del (hg19) ; chr7:g.45913578_45913583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45913579_45913584del , CM000669.2:g.45913579_45913584del	GRCh38
NC_000007.13:g.45953178_45953183del , CM000669.1:g.45953178_45953183del	GRCh37
NC_000007.12:g.45919703_45919708del	NCBI36
NG_011508.1:g.12690_12695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613132.5:c.*267_*272del MANE Select	ENSP00000477772.2:n.*267_*272del
ENST00000381083.9:c.*267_*272del	ENSP00000370473.4:n.*267_*272del
ENST00000275521.10:c.*267_*272del	ENSP00000275521.5:n.*267_*272del
ENST00000381086.9:c.*267_*272del	ENSP00000370476.4:n.*267_*272del
ENST00000613132.4:c.1080_1085del	ENSP00000477772.1:n.1080_1085del
NM_000598.4:c.*267_*272del	NP_000589.2:n.*267_*272del
NM_001013398.1:c.*267_*272del	NP_001013416.1:n.*267_*272del
NM_001013398.2:c.*267_*272del	NP_001013416.1:n.*267_*272del
NM_000598.5:c.*267_*272del MANE Select	NP_000589.2:n.*267_*272del