Canonical Allele Identifier: CA2810344962
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123892_72123894dup , CM000679.2:g.72123892_72123894dup GRCh38
NC_000017.10:g.70120033_70120035dup , CM000679.1:g.70120033_70120035dup GRCh37
NC_000017.9:g.67631628_67631630dup NCBI36
NG_012490.1:g.7873_7875dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1035_1037dup MANE Select ENSP00000245479.2:p.Pro346_Gln347insPro
ENST00000245479.2:c.1035_1037dup ENSP00000245479.2:p.Pro346_Gln347insPro
NM_000346.3:c.1035_1037dup NP_000337.1:p.Pro346_Gln347insPro
NM_000346.4:c.1035_1037dup MANE Select NP_000337.1:p.Pro346_Gln347insPro
Search 100 bp 5'
Search 100 bp 3'