Canonical Allele Identifier: CA2273926503
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123898_72123907delinsGCAGCCCCCA , CM000679.2:g.72123898_72123907delinsGCAGCCCCCA GRCh38
NC_000017.10:g.70120039_70120048delinsGCAGCCCCCA , CM000679.1:g.70120039_70120048delinsGCAGCCCCCA GRCh37
NC_000017.9:g.67631634_67631643delinsGCAGCCCCCA NCBI36
NG_012490.1:g.7879_7888delinsGCAGCCCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1041_1050delinsGCAGCCCCCA MANE Select ENSP00000245479.2:p.Gln347=
ENST00000245479.2:c.1041_1050delinsGCAGCCCCCA ENSP00000245479.2:p.Gln347=
NM_000346.3:c.1041_1050delinsGCAGCCCCCA NP_000337.1:p.Gln347=
NM_000346.4:c.1041_1050delinsGCAGCCCCCA MANE Select NP_000337.1:p.Gln347=
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