Canonical Allele Identifier: CA2639603113
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123563-A-ACCCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123567_72123568insCCCCCCCC , CM000679.2:g.72123567_72123568insCCCCCCCC GRCh38
NC_000017.10:g.70119708_70119709insCCCCCCCC , CM000679.1:g.70119708_70119709insCCCCCCCC GRCh37
NC_000017.9:g.67631303_67631304insCCCCCCCC NCBI36
NG_012490.1:g.7548_7549insCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.710_711insCCCCCCCC MANE Select ENSP00000245479.2:p.Thr239ProfsTer17
ENST00000245479.2:c.710_711insCCCCCCCC ENSP00000245479.2:p.Thr239ProfsTer17
NM_000346.3:c.710_711insCCCCCCCC NP_000337.1:p.Thr239ProfsTer17
NM_000346.4:c.710_711insCCCCCCCC MANE Select NP_000337.1:p.Thr239ProfsTer17
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