Canonical Allele Identifier: CA2273926519
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2222804
ClinVar RCV Id: RCV002678063 RCV003603132
dbSNP Id: rs761585795
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123918_72123926dup , CM000679.2:g.72123918_72123926dup GRCh38
NC_000017.10:g.70120059_70120067dup , CM000679.1:g.70120059_70120067dup GRCh37
NC_000017.9:g.67631654_67631662dup NCBI36
NG_012490.1:g.7899_7907dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1061_1069dup MANE Select ENSP00000245479.2:p.Pro356_Gln357insProAlaPro
ENST00000245479.2:c.1061_1069dup ENSP00000245479.2:p.Pro356_Gln357insProAlaPro
NM_000346.3:c.1061_1069dup NP_000337.1:p.Pro356_Gln357insProAlaPro
NM_000346.4:c.1061_1069dup MANE Select NP_000337.1:p.Pro356_Gln357insProAlaPro
Search 100 bp 5'
Search 100 bp 3'