Canonical Allele Identifier: CA8592737
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs764671012
ExAC: 17:41832667 CAGGGCCGGGGCGCCCGCCGGTGGGG / C
gnomAD v2: 17-41832667-CAGGGCCGGGGCGCCCGCCGGTGGGG-C
gnomAD v3: 17-43755299-CAGGGCCGGGGCGCCCGCCGGTGGGG-C
gnomAD v4: 17-43755299-CAGGGCCGGGGCGCCCGCCGGTGGGG-C
MyVariant Identifiers: chr17:g.41832668_41832692del (hg19) chr17:g.43755300_43755324del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755304_43755328del , CM000679.2:g.43755304_43755328del GRCh38
NC_000017.10:g.41832672_41832696del , CM000679.1:g.41832672_41832696del GRCh37
NC_000017.9:g.39188198_39188222del NCBI36
NG_008078.2:g.8465_8489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.*18_*42del MANE Select ENSP00000301691.1:n.*18_*42del
ENST00000301691.2:c.*18_*42del ENSP00000301691.1:n.*18_*42del
NM_025237.2:c.*18_*42del NP_079513.1:n.*18_*42del
NM_025237.3:c.*18_*42del MANE Select NP_079513.1:n.*18_*42del
Search 100 bp 5'
Search 100 bp 3'