Canonical Allele Identifier: CA2830850652
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123860_72123861insA , CM000679.2:g.72123860_72123861insA GRCh38
NC_000017.10:g.70120001_70120002insA , CM000679.1:g.70120001_70120002insA GRCh37
NC_000017.9:g.67631596_67631597insA NCBI36
NG_012490.1:g.7841_7842insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1003_1004insA MANE Select ENSP00000245479.2:p.Trp335Ter
ENST00000245479.2:c.1003_1004insA ENSP00000245479.2:p.Trp335Ter
NM_000346.3:c.1003_1004insA NP_000337.1:p.Trp335Ter
NM_000346.4:c.1003_1004insA MANE Select NP_000337.1:p.Trp335Ter
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