Canonical Allele Identifier: CA290856826
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs775556542
MyVariant Identifiers: chr17:g.41832711_41832713del (hg19) chr17:g.43755343_43755345del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755346_43755348del , CM000679.2:g.43755346_43755348del GRCh38
NC_000017.10:g.41832714_41832716del , CM000679.1:g.41832714_41832716del GRCh37
NC_000017.9:g.39188240_39188242del NCBI36
NG_008078.2:g.8444_8446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.639_641del MANE Select ENSP00000301691.1:p.Tyr213Ter
ENST00000301691.2:c.639_641del ENSP00000301691.1:p.Tyr213Ter
NM_025237.2:c.639_641del NP_079513.1:p.Tyr213Ter
NM_025237.3:c.639_641del MANE Select NP_079513.1:p.Tyr213Ter
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