Canonical Allele Identifier: CA1065112451
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1722169434
gnomAD v3: 4-87811453-AAGC-A
gnomAD v4: 4-87811453-AAGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811456_87811458del , CM000666.2:g.87811456_87811458del GRCh38
NC_000004.11:g.88732608_88732610del , CM000666.1:g.88732608_88732610del GRCh37
NC_000004.10:g.88951632_88951634del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.500_502del MANE Select ENSP00000226284.5:p.Ala167del
ENST00000226284.6:c.500_502del ENSP00000226284.5:p.Ala167del
NM_004967.3:c.500_502del NP_004958.2:p.Ala167del
NM_004967.4:c.500_502del MANE Select NP_004958.2:p.Ala167del
Search 100 bp 5'
Search 100 bp 3'