Canonical Allele Identifier: CA2273926542
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG , CM000679.2:g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG GRCh38
NC_000017.10:g.70120075_70120093delinsCCCGCAGCCGCAGGCGGCG , CM000679.1:g.70120075_70120093delinsCCCGCAGCCGCAGGCGGCG GRCh37
NC_000017.9:g.67631670_67631688delinsCCCGCAGCCGCAGGCGGCG NCBI36
NG_012490.1:g.7915_7933delinsCCCGCAGCCGCAGGCGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1077_1095delinsCCCGCAGCCGCAGGCGGCG MANE Select ENSP00000245479.2:p.Pro359=
ENST00000245479.2:c.1077_1095delinsCCCGCAGCCGCAGGCGGCG ENSP00000245479.2:p.Pro359=
NM_000346.3:c.1077_1095delinsCCCGCAGCCGCAGGCGGCG NP_000337.1:p.Pro359=
NM_000346.4:c.1077_1095delinsCCCGCAGCCGCAGGCGGCG MANE Select NP_000337.1:p.Pro359=
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