Canonical Allele Identifier: CA2273926529
Gene: SOX9 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123921_72123939delinsCCCCGCAGGCGCCCCCGCA , CM000679.2:g.72123921_72123939delinsCCCCGCAGGCGCCCCCGCA GRCh38
NC_000017.10:g.70120062_70120080delinsCCCCGCAGGCGCCCCCGCA , CM000679.1:g.70120062_70120080delinsCCCCGCAGGCGCCCCCGCA GRCh37
NC_000017.9:g.67631657_67631675delinsCCCCGCAGGCGCCCCCGCA NCBI36
NG_012490.1:g.7902_7920delinsCCCCGCAGGCGCCCCCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1064_1082delinsCCCCGCAGGCGCCCCCGCA MANE Select ENSP00000245479.2:p.Ala355=
ENST00000245479.2:c.1064_1082delinsCCCCGCAGGCGCCCCCGCA ENSP00000245479.2:p.Ala355=
NM_000346.3:c.1064_1082delinsCCCCGCAGGCGCCCCCGCA NP_000337.1:p.Ala355=
NM_000346.4:c.1064_1082delinsCCCCGCAGGCGCCCCCGCA MANE Select NP_000337.1:p.Ala355=
Search 100 bp 5'
Search 100 bp 3'