Canonical Allele Identifier: CA2503076445
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122334_72122335insTC , CM000679.2:g.72122334_72122335insTC GRCh38
NC_000017.10:g.70118475_70118476insTC , CM000679.1:g.70118475_70118476insTC GRCh37
NC_000017.9:g.67630070_67630071insTC NCBI36
NG_012490.1:g.6315_6316insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-385_432-384insTC MANE Select ENSP00000245479.2:n.432-385_432-384insTC
ENST00000245479.2:c.432-385_432-384insTC ENSP00000245479.2:n.432-385_432-384insTC
NM_000346.3:c.432-385_432-384insTC NP_000337.1:n.432-385_432-384insTC
NM_000346.4:c.432-385_432-384insTC MANE Select NP_000337.1:n.432-385_432-384insTC