Canonical Allele Identifier: CA2273926239
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123409_72123411delinsAGC , CM000679.2:g.72123409_72123411delinsAGC GRCh38
NC_000017.10:g.70119550_70119552delinsAGC , CM000679.1:g.70119550_70119552delinsAGC GRCh37
NC_000017.9:g.67631145_67631147delinsAGC NCBI36
NG_012490.1:g.7390_7392delinsAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.686-134_686-132delinsAGC MANE Select ENSP00000245479.2:n.686-134_686-132delinsAGC
ENST00000245479.2:c.686-134_686-132delinsAGC ENSP00000245479.2:n.686-134_686-132delinsAGC
NM_000346.3:c.686-134_686-132delinsAGC NP_000337.1:n.686-134_686-132delinsAGC
NM_000346.4:c.686-134_686-132delinsAGC MANE Select NP_000337.1:n.686-134_686-132delinsAGC
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