Canonical Allele Identifier: CA2706380050
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs2110058634
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811367_87811368del , CM000666.2:g.87811367_87811368del GRCh38
NC_000004.11:g.88732519_88732520del , CM000666.1:g.88732519_88732520del GRCh37
NC_000004.10:g.88951543_88951544del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.411_412del MANE Select ENSP00000226284.5:p.Asp138TyrfsTer4
ENST00000226284.6:c.411_412del ENSP00000226284.5:p.Asp138TyrfsTer4
NM_004967.3:c.411_412del NP_004958.2:p.Asp138TyrfsTer4
NM_004967.4:c.411_412del MANE Select NP_004958.2:p.Asp138TyrfsTer4
Search 100 bp 5'
Search 100 bp 3'