Canonical Allele Identifier: CA986061896
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v3: 17-72122477-A-AGGGG
gnomAD v4: 17-72122477-A-AGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122478_72122481dup , CM000679.2:g.72122478_72122481dup GRCh38
NC_000017.10:g.70118619_70118622dup , CM000679.1:g.70118619_70118622dup GRCh37
NC_000017.9:g.67630214_67630217dup NCBI36
NG_012490.1:g.6459_6462dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-241_432-238dup MANE Select ENSP00000245479.2:n.432-241_432-238dup
ENST00000245479.2:c.432-241_432-238dup ENSP00000245479.2:n.432-241_432-238dup
NM_000346.3:c.432-241_432-238dup NP_000337.1:n.432-241_432-238dup
NM_000346.4:c.432-241_432-238dup MANE Select NP_000337.1:n.432-241_432-238dup
Search 100 bp 5'
Search 100 bp 3'