Canonical Allele Identifier: CA2564427134
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122357_72122358insAAA , CM000679.2:g.72122357_72122358insAAA GRCh38
NC_000017.10:g.70118498_70118499insAAA , CM000679.1:g.70118498_70118499insAAA GRCh37
NC_000017.9:g.67630093_67630094insAAA NCBI36
NG_012490.1:g.6338_6339insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-362_432-361insAAA MANE Select ENSP00000245479.2:n.432-362_432-361insAAA
ENST00000245479.2:c.432-362_432-361insAAA ENSP00000245479.2:n.432-362_432-361insAAA
NM_000346.3:c.432-362_432-361insAAA NP_000337.1:n.432-362_432-361insAAA
NM_000346.4:c.432-362_432-361insAAA MANE Select NP_000337.1:n.432-362_432-361insAAA