Canonical Allele Identifier: CA2273925856
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908137870
gnomAD v4: 17-72122696-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122702del , CM000679.2:g.72122702del GRCh38
NC_000017.10:g.70118843del , CM000679.1:g.70118843del GRCh37
NC_000017.9:g.67630438del NCBI36
NG_012490.1:g.6683del

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.432-17del MANE Select ENSP00000245479.2:n.432-17del
ENST00000245479.2:c.432-17del ENSP00000245479.2:n.432-17del
NM_000346.3:c.432-17del NP_000337.1:n.432-17del
NM_000346.4:c.432-17del MANE Select NP_000337.1:n.432-17del
Search 100 bp 5'
Search 100 bp 3'