Canonical Allele Identifier: CA2576374479
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122713_72122715del , CM000679.2:g.72122713_72122715del GRCh38
NC_000017.10:g.70118854_70118856del , CM000679.1:g.70118854_70118856del GRCh37
NC_000017.9:g.67630449_67630451del NCBI36
NG_012490.1:g.6694_6696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-6_432-4del MANE Select ENSP00000245479.2:n.432-6_432-4del
ENST00000245479.2:c.432-6_432-4del ENSP00000245479.2:n.432-6_432-4del
NM_000346.3:c.432-6_432-4del NP_000337.1:n.432-6_432-4del
NM_000346.4:c.432-6_432-4del MANE Select NP_000337.1:n.432-6_432-4del
Search 100 bp 5'
Search 100 bp 3'