Canonical Allele Identifier: CA2273926337
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123563_72123564delinsAC , CM000679.2:g.72123563_72123564delinsAC GRCh38
NC_000017.10:g.70119704_70119705delinsAC , CM000679.1:g.70119704_70119705delinsAC GRCh37
NC_000017.9:g.67631299_67631300delinsAC NCBI36
NG_012490.1:g.7544_7545delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.706_707delinsAC MANE Select ENSP00000245479.2:p.Thr236=
ENST00000245479.2:c.706_707delinsAC ENSP00000245479.2:p.Thr236=
NM_000346.3:c.706_707delinsAC NP_000337.1:p.Thr236=
NM_000346.4:c.706_707delinsAC MANE Select NP_000337.1:p.Thr236=
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