Canonical Allele Identifier: CA2639603114
Gene: SOX9 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000017.11:g.72123567_72123568insCCCCCCCCCC , CM000679.2:g.72123567_72123568insCCCCCCCCCC GRCh38
NC_000017.10:g.70119708_70119709insCCCCCCCCCC , CM000679.1:g.70119708_70119709insCCCCCCCCCC GRCh37
NC_000017.9:g.67631303_67631304insCCCCCCCCCC NCBI36
NG_012490.1:g.7548_7549insCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.710_711insCCCCCCCCCC MANE Select ENSP00000245479.2:p.Thr239ProfsTer16
ENST00000245479.2:c.710_711insCCCCCCCCCC ENSP00000245479.2:p.Thr239ProfsTer16
NM_000346.3:c.710_711insCCCCCCCCCC NP_000337.1:p.Thr239ProfsTer16
NM_000346.4:c.710_711insCCCCCCCCCC MANE Select NP_000337.1:p.Thr239ProfsTer16
Search 100 bp 5'
Search 100 bp 3'