Canonical Allele Identifier: CA2273926525
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123918_72123927delinsCGGCCCCGCA , CM000679.2:g.72123918_72123927delinsCGGCCCCGCA GRCh38
NC_000017.10:g.70120059_70120068delinsCGGCCCCGCA , CM000679.1:g.70120059_70120068delinsCGGCCCCGCA GRCh37
NC_000017.9:g.67631654_67631663delinsCGGCCCCGCA NCBI36
NG_012490.1:g.7899_7908delinsCGGCCCCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1061_1070delinsCGGCCCCGCA MANE Select ENSP00000245479.2:p.Pro354=
ENST00000245479.2:c.1061_1070delinsCGGCCCCGCA ENSP00000245479.2:p.Pro354=
NM_000346.3:c.1061_1070delinsCGGCCCCGCA NP_000337.1:p.Pro354=
NM_000346.4:c.1061_1070delinsCGGCCCCGCA MANE Select NP_000337.1:p.Pro354=
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