Canonical Allele Identifier: CA2695226897
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123644_72123664del , CM000679.2:g.72123644_72123664del GRCh38
NC_000017.10:g.70119785_70119805del , CM000679.1:g.70119785_70119805del GRCh37
NC_000017.9:g.67631380_67631400del NCBI36
NG_012490.1:g.7625_7645del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.787_807del MANE Select ENSP00000245479.2:p.Gly263_Asp269del
ENST00000245479.2:c.787_807del ENSP00000245479.2:p.Gly263_Asp269del
NM_000346.3:c.787_807del NP_000337.1:p.Gly263_Asp269del
NM_000346.4:c.787_807del MANE Select NP_000337.1:p.Gly263_Asp269del
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Search 100 bp 3'