Canonical Allele Identifier: CA2273926572
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1749756520
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123967_72123968insCAG , CM000679.2:g.72123967_72123968insCAG GRCh38
NC_000017.10:g.70120108_70120109insCAG , CM000679.1:g.70120108_70120109insCAG GRCh37
NC_000017.9:g.67631703_67631704insCAG NCBI36
NG_012490.1:g.7948_7949insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1110_1111insCAG MANE Select ENSP00000245479.2:p.Pro370_Ala371insGln
ENST00000245479.2:c.1110_1111insCAG ENSP00000245479.2:p.Pro370_Ala371insGln
NM_000346.3:c.1110_1111insCAG NP_000337.1:p.Pro370_Ala371insGln
NM_000346.4:c.1110_1111insCAG MANE Select NP_000337.1:p.Pro370_Ala371insGln
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