Canonical Allele Identifier: CA2573054565
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1312849
ClinVar RCV Id: RCV001774303
dbSNP Id: rs2143256500
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124161_72124163delinsCCC , CM000679.2:g.72124161_72124163delinsCCC GRCh38
NC_000017.10:g.70120302_70120304delinsCCC , CM000679.1:g.70120302_70120304delinsCCC GRCh37
NC_000017.9:g.67631897_67631899delinsCCC NCBI36
NG_012490.1:g.8142_8144delinsCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1304_1306delinsCCC MANE Select ENSP00000245479.2:p.Ile435_Thr436delinsThrPro
ENST00000245479.2:c.1304_1306delinsCCC ENSP00000245479.2:p.Ile435_Thr436delinsThrPro
NM_000346.3:c.1304_1306delinsCCC NP_000337.1:p.Ile435_Thr436delinsThrPro
NM_000346.4:c.1304_1306delinsCCC MANE Select NP_000337.1:p.Ile435_Thr436delinsThrPro
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