Canonical Allele Identifier: CA983937570
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs1974114248
gnomAD v3: 17-43755307-GGGCGCCCGCCGGTGGGGAGGGGCGC-G
gnomAD v4: 17-43755307-GGGCGCCCGCCGGTGGGGAGGGGCGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755310_43755334del , CM000679.2:g.43755310_43755334del GRCh38
NC_000017.10:g.41832678_41832702del , CM000679.1:g.41832678_41832702del GRCh37
NC_000017.9:g.39188204_39188228del NCBI36
NG_008078.2:g.8457_8481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.*10_*34del MANE Select ENSP00000301691.1:n.*10_*34del
ENST00000301691.2:c.*10_*34del ENSP00000301691.1:n.*10_*34del
NM_025237.2:c.*10_*34del NP_079513.1:n.*10_*34del
NM_025237.3:c.*10_*34del MANE Select NP_079513.1:n.*10_*34del
Search 100 bp 5'
Search 100 bp 3'