Canonical Allele Identifier: CA2273926238
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123409_72123420delinsAGCGCGCCTCTT , CM000679.2:g.72123409_72123420delinsAGCGCGCCTCTT GRCh38
NC_000017.10:g.70119550_70119561delinsAGCGCGCCTCTT , CM000679.1:g.70119550_70119561delinsAGCGCGCCTCTT GRCh37
NC_000017.9:g.67631145_67631156delinsAGCGCGCCTCTT NCBI36
NG_012490.1:g.7390_7401delinsAGCGCGCCTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-134_686-123delinsAGCGCGCCTCTT MANE Select ENSP00000245479.2:n.686-134_686-123delinsAGCGCGCCTCTT
ENST00000245479.2:c.686-134_686-123delinsAGCGCGCCTCTT ENSP00000245479.2:n.686-134_686-123delinsAGCGCGCCTCTT
NM_000346.3:c.686-134_686-123delinsAGCGCGCCTCTT NP_000337.1:n.686-134_686-123delinsAGCGCGCCTCTT
NM_000346.4:c.686-134_686-123delinsAGCGCGCCTCTT MANE Select NP_000337.1:n.686-134_686-123delinsAGCGCGCCTCTT
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