Canonical Allele Identifier: CA774799623
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1212545436
gnomAD v4: 17-72122675-C-CCT
MyVariant Identifiers: chr17:g.70118816_70118817insCT (hg19) chr17:g.72122675_72122676insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122679_72122680dup , CM000679.2:g.72122679_72122680dup GRCh38
NC_000017.10:g.70118820_70118821dup , CM000679.1:g.70118820_70118821dup GRCh37
NC_000017.9:g.67630415_67630416dup NCBI36
NG_012490.1:g.6660_6661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-40_432-39dup MANE Select ENSP00000245479.2:n.432-40_432-39dup
ENST00000245479.2:c.432-40_432-39dup ENSP00000245479.2:n.432-40_432-39dup
NM_000346.3:c.432-40_432-39dup NP_000337.1:n.432-40_432-39dup
NM_000346.4:c.432-40_432-39dup MANE Select NP_000337.1:n.432-40_432-39dup
Search 100 bp 5'
Search 100 bp 3'