Canonical Allele Identifier: CA2273926498
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123889_72123901delinsACCCCCGCAGCAG , CM000679.2:g.72123889_72123901delinsACCCCCGCAGCAG GRCh38
NC_000017.10:g.70120030_70120042delinsACCCCCGCAGCAG , CM000679.1:g.70120030_70120042delinsACCCCCGCAGCAG GRCh37
NC_000017.9:g.67631625_67631637delinsACCCCCGCAGCAG NCBI36
NG_012490.1:g.7870_7882delinsACCCCCGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1032_1044delinsACCCCCGCAGCAG MANE Select ENSP00000245479.2:p.Pro344=
ENST00000245479.2:c.1032_1044delinsACCCCCGCAGCAG ENSP00000245479.2:p.Pro344=
NM_000346.3:c.1032_1044delinsACCCCCGCAGCAG NP_000337.1:p.Pro344=
NM_000346.4:c.1032_1044delinsACCCCCGCAGCAG MANE Select NP_000337.1:p.Pro344=
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