Canonical Allele Identifier: CA2273926345
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123575_72123576delinsAC , CM000679.2:g.72123575_72123576delinsAC GRCh38
NC_000017.10:g.70119716_70119717delinsAC , CM000679.1:g.70119716_70119717delinsAC GRCh37
NC_000017.9:g.67631311_67631312delinsAC NCBI36
NG_012490.1:g.7556_7557delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.718_719delinsAC MANE Select ENSP00000245479.2:p.Thr240=
ENST00000245479.2:c.718_719delinsAC ENSP00000245479.2:p.Thr240=
NM_000346.3:c.718_719delinsAC NP_000337.1:p.Thr240=
NM_000346.4:c.718_719delinsAC MANE Select NP_000337.1:p.Thr240=
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