Canonical Allele Identifier: CA774799628
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1269804973
MyVariant Identifiers: chr17:g.70118818_70118819insC (hg19) chr17:g.72122677_72122678insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122678dup , CM000679.2:g.72122678dup GRCh38
NC_000017.10:g.70118819dup , CM000679.1:g.70118819dup GRCh37
NC_000017.9:g.67630414dup NCBI36
NG_012490.1:g.6659dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-41dup MANE Select ENSP00000245479.2:n.432-41dup
ENST00000245479.2:c.432-41dup ENSP00000245479.2:n.432-41dup
NM_000346.3:c.432-41dup NP_000337.1:n.432-41dup
NM_000346.4:c.432-41dup MANE Select NP_000337.1:n.432-41dup
Search 100 bp 5'
Search 100 bp 3'