Canonical Allele Identifier: CA2273926568
Gene: SOX9 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCG , CM000679.2:g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCG GRCh38
NC_000017.10:g.70120099_70120120delinsACAGCAGCCGGCGGCACCCCCG , CM000679.1:g.70120099_70120120delinsACAGCAGCCGGCGGCACCCCCG GRCh37
NC_000017.9:g.67631694_67631715delinsACAGCAGCCGGCGGCACCCCCG NCBI36
NG_012490.1:g.7939_7960delinsACAGCAGCCGGCGGCACCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG MANE Select ENSP00000245479.2:p.Pro367=
ENST00000245479.2:c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG ENSP00000245479.2:p.Pro367=
NM_000346.3:c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG NP_000337.1:p.Pro367=
NM_000346.4:c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG MANE Select NP_000337.1:p.Pro367=
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