Canonical Allele Identifier: CA2639603060
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143249267
gnomAD v4: 17-72123433-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123436del , CM000679.2:g.72123436del GRCh38
NC_000017.10:g.70119577del , CM000679.1:g.70119577del GRCh37
NC_000017.9:g.67631172del NCBI36
NG_012490.1:g.7417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-107del MANE Select ENSP00000245479.2:n.686-107del
ENST00000245479.2:c.686-107del ENSP00000245479.2:n.686-107del
NM_000346.3:c.686-107del NP_000337.1:n.686-107del
NM_000346.4:c.686-107del MANE Select NP_000337.1:n.686-107del
Search 100 bp 5'
Search 100 bp 3'