Canonical Allele Identifier: CA2273926270
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123448_72123451delinsTAGC , CM000679.2:g.72123448_72123451delinsTAGC GRCh38
NC_000017.10:g.70119589_70119592delinsTAGC , CM000679.1:g.70119589_70119592delinsTAGC GRCh37
NC_000017.9:g.67631184_67631187delinsTAGC NCBI36
NG_012490.1:g.7429_7432delinsTAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-95_686-92delinsTAGC MANE Select ENSP00000245479.2:n.686-95_686-92delinsTAGC
ENST00000245479.2:c.686-95_686-92delinsTAGC ENSP00000245479.2:n.686-95_686-92delinsTAGC
NM_000346.3:c.686-95_686-92delinsTAGC NP_000337.1:n.686-95_686-92delinsTAGC
NM_000346.4:c.686-95_686-92delinsTAGC MANE Select NP_000337.1:n.686-95_686-92delinsTAGC