Canonical Allele Identifier: CA774799502
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1322322953
gnomAD v3: 17-72122365-GAA-G
gnomAD v4: 17-72122365-GAA-G
MyVariant Identifiers: chr17:g.70118507_70118508del (hg19) chr17:g.72122366_72122367del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122367_72122368del , CM000679.2:g.72122367_72122368del GRCh38
NC_000017.10:g.70118508_70118509del , CM000679.1:g.70118508_70118509del GRCh37
NC_000017.9:g.67630103_67630104del NCBI36
NG_012490.1:g.6348_6349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-352_432-351del MANE Select ENSP00000245479.2:n.432-352_432-351del
ENST00000245479.2:c.432-352_432-351del ENSP00000245479.2:n.432-352_432-351del
NM_000346.3:c.432-352_432-351del NP_000337.1:n.432-352_432-351del
NM_000346.4:c.432-352_432-351del MANE Select NP_000337.1:n.432-352_432-351del
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