Canonical Allele Identifier: CA2639603123
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123583-A-ACCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123583_72123584insCCC , CM000679.2:g.72123583_72123584insCCC GRCh38
NC_000017.10:g.70119724_70119725insCCC , CM000679.1:g.70119724_70119725insCCC GRCh37
NC_000017.9:g.67631319_67631320insCCC NCBI36
NG_012490.1:g.7564_7565insCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.726_727insCCC MANE Select ENSP00000245479.2:p.Lys242_Thr243insPro
ENST00000245479.2:c.726_727insCCC ENSP00000245479.2:p.Lys242_Thr243insPro
NM_000346.3:c.726_727insCCC NP_000337.1:p.Lys242_Thr243insPro
NM_000346.4:c.726_727insCCC MANE Select NP_000337.1:p.Lys242_Thr243insPro
Search 100 bp 5'
Search 100 bp 3'