Canonical Allele Identifier: CA8592766
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs754089115
ExAC: 17:41832774 CG / C
gnomAD v2: 17-41832774-CG-C
gnomAD v4: 17-43755406-CG-C
MyVariant Identifiers: chr17:g.41832775del (hg19) chr17:g.43755407del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755408del , CM000679.2:g.43755408del GRCh38
NC_000017.10:g.41832776del , CM000679.1:g.41832776del GRCh37
NC_000017.9:g.39188302del NCBI36
NG_008078.2:g.8382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.577del MANE Select ENSP00000301691.1:p.Arg193GlyfsTer?
ENST00000301691.2:c.577del ENSP00000301691.1:p.Arg193GlyfsTer?
NM_025237.2:c.577del NP_079513.1:p.Arg193GlyfsTer?
NM_025237.3:c.577del MANE Select NP_079513.1:p.Arg193GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'