Canonical Allele Identifier: CA2639603121
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123579-C-CCCAAAACCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123580_72123581insCAAAACCAC , CM000679.2:g.72123580_72123581insCAAAACCAC GRCh38
NC_000017.10:g.70119721_70119722insCAAAACCAC , CM000679.1:g.70119721_70119722insCAAAACCAC GRCh37
NC_000017.9:g.67631316_67631317insCAAAACCAC NCBI36
NG_012490.1:g.7561_7562insCAAAACCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.723_724insCAAAACCAC MANE Select ENSP00000245479.2:p.Pro241_Lys242insGlnAsnHis
ENST00000245479.2:c.723_724insCAAAACCAC ENSP00000245479.2:p.Pro241_Lys242insGlnAsnHis
NM_000346.3:c.723_724insCAAAACCAC NP_000337.1:p.Pro241_Lys242insGlnAsnHis
NM_000346.4:c.723_724insCAAAACCAC MANE Select NP_000337.1:p.Pro241_Lys242insGlnAsnHis
Search 100 bp 5'
Search 100 bp 3'