Canonical Allele Identifier: CA774799487
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1378470625
gnomAD v3: 17-72122316-G-GGTGGGGGGTGAGAA
gnomAD v4: 17-72122316-G-GGTGGGGGGTGAGAA
MyVariant Identifiers: chr17:g.70118457_70118458insGTGGGGGGTGAGAA (hg19) chr17:g.72122316_72122317insGTGGGGGGTGAGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122317_72122330dup , CM000679.2:g.72122317_72122330dup GRCh38
NC_000017.10:g.70118458_70118471dup , CM000679.1:g.70118458_70118471dup GRCh37
NC_000017.9:g.67630053_67630066dup NCBI36
NG_012490.1:g.6298_6311dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-402_432-389dup MANE Select ENSP00000245479.2:n.432-402_432-389dup
ENST00000245479.2:c.432-402_432-389dup ENSP00000245479.2:n.432-402_432-389dup
NM_000346.3:c.432-402_432-389dup NP_000337.1:n.432-402_432-389dup
NM_000346.4:c.432-402_432-389dup MANE Select NP_000337.1:n.432-402_432-389dup
Search 100 bp 5'
Search 100 bp 3'