Canonical Allele Identifier: CA2273926536
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123929_72123935delinsGCGCCCC , CM000679.2:g.72123929_72123935delinsGCGCCCC GRCh38
NC_000017.10:g.70120070_70120076delinsGCGCCCC , CM000679.1:g.70120070_70120076delinsGCGCCCC GRCh37
NC_000017.9:g.67631665_67631671delinsGCGCCCC NCBI36
NG_012490.1:g.7910_7916delinsGCGCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1072_1078delinsGCGCCCC MANE Select ENSP00000245479.2:p.Ala358=
ENST00000245479.2:c.1072_1078delinsGCGCCCC ENSP00000245479.2:p.Ala358=
NM_000346.3:c.1072_1078delinsGCGCCCC NP_000337.1:p.Ala358=
NM_000346.4:c.1072_1078delinsGCGCCCC MANE Select NP_000337.1:p.Ala358=
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