Canonical Allele Identifier: CA796571450
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs1364815428
gnomAD v3: 4-57073605-AATT-A
gnomAD v4: 4-57073605-AATT-A
MyVariant Identifiers: chr4:g.57939772_57939774del (hg19) chr4:g.57073606_57073608del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57073607_57073609del , CM000666.2:g.57073607_57073609del GRCh38
NC_000004.11:g.57939773_57939775del , CM000666.1:g.57939773_57939775del GRCh37
NC_000004.10:g.57634530_57634532del NCBI36
NG_031877.1:g.41778_41780del

Transcript Alleles

HGVS Amino-acid change
ENST00000295666.6:c.476-32675_476-32673del MANE Select ENSP00000295666.4:n.476-32675_476-32673de...
ENST00000514062.2:c.476-32675_476-32673del ENSP00000486293.1:n.476-32675_476-32673de...
NM_001253835.1:c.476-32675_476-32673del NP_001240764.1:n.476-32675_476-32673del
NM_001553.2:c.476-32675_476-32673del NP_001544.1:n.476-32675_476-32673del
NM_001553.3:c.476-32675_476-32673del MANE Select NP_001544.1:n.476-32675_476-32673del
NM_001253835.2:c.476-32675_476-32673del NP_001240764.1:n.476-32675_476-32673del
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