Canonical Allele Identifier: CA2810344953
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123579_72123580del , CM000679.2:g.72123579_72123580del GRCh38
NC_000017.10:g.70119720_70119721del , CM000679.1:g.70119720_70119721del GRCh37
NC_000017.9:g.67631315_67631316del NCBI36
NG_012490.1:g.7560_7561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.722_723del MANE Select ENSP00000245479.2:p.Pro241GlnfsTer10
ENST00000245479.2:c.722_723del ENSP00000245479.2:p.Pro241GlnfsTer10
NM_000346.3:c.722_723del NP_000337.1:p.Pro241GlnfsTer10
NM_000346.4:c.722_723del MANE Select NP_000337.1:p.Pro241GlnfsTer10
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Search 100 bp 3'