Canonical Allele Identifier: CA290857086
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs960095231
gnomAD v3: 17-43755625-C-CCGATGG
gnomAD v4: 17-43755625-C-CCGATGG
MyVariant Identifiers: chr17:g.41832993_41832994insCGATGG (hg19) chr17:g.43755625_43755626insCGATGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755628_43755633dup , CM000679.2:g.43755628_43755633dup GRCh38
NC_000017.10:g.41832996_41833001dup , CM000679.1:g.41832996_41833001dup GRCh37
NC_000017.9:g.39188522_39188527dup NCBI36
NG_008078.2:g.8158_8163dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.353_358dup MANE Select ENSP00000301691.1:p.Ile119_Gly120insAlaIle
ENST00000301691.2:c.353_358dup ENSP00000301691.1:p.Ile119_Gly120insAlaIle
NM_025237.2:c.353_358dup NP_079513.1:p.Ile119_Gly120insAlaIle
NM_025237.3:c.353_358dup MANE Select NP_079513.1:p.Ile119_Gly120insAlaIle
Search 100 bp 5'
Search 100 bp 3'