Canonical Allele Identifier: CA626222051
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs1567776772
gnomAD v2: 17-41833035-GA-G
gnomAD v4: 17-43755667-GA-G
MyVariant Identifiers: chr17:g.41833036del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755668del , CM000679.2:g.43755668del GRCh38
NC_000017.10:g.41833036del , CM000679.1:g.41833036del GRCh37
NC_000017.9:g.39188562del NCBI36
NG_008078.2:g.8121del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.316del MANE Select ENSP00000301691.1:p.Ser106ProfsTer?
ENST00000301691.2:c.316del ENSP00000301691.1:p.Ser106ProfsTer?
NM_025237.2:c.316del NP_079513.1:p.Ser106ProfsTer?
NM_025237.3:c.316del MANE Select NP_079513.1:p.Ser106ProfsTer?
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