Canonical Allele Identifier: CA2639603156
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123889-A-ACCCCCGCAGCAG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123895_72123906dup , CM000679.2:g.72123895_72123906dup GRCh38
NC_000017.10:g.70120036_70120047dup , CM000679.1:g.70120036_70120047dup GRCh37
NC_000017.9:g.67631631_67631642dup NCBI36
NG_012490.1:g.7876_7887dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1038_1049dup MANE Select ENSP00000245479.2:p.Pro350_Gln351insGlnGlnProPro
ENST00000245479.2:c.1038_1049dup ENSP00000245479.2:p.Pro350_Gln351insGlnGlnProPro
NM_000346.3:c.1038_1049dup NP_000337.1:p.Pro350_Gln351insGlnGlnProPro
NM_000346.4:c.1038_1049dup MANE Select NP_000337.1:p.Pro350_Gln351insGlnGlnProPro
Search 100 bp 5'
Search 100 bp 3'