Canonical Allele Identifier: CA627589978
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1490116991
gnomAD v2: 17-70119763-G-GGGGCGCCCCTTGCCAGAGGGGGGC
gnomAD v3: 17-72123622-G-GGGGCGCCCCTTGCCAGAGGGGGGC
gnomAD v4: 17-72123622-G-GGGGCGCCCCTTGCCAGAGGGGGGC
MyVariant Identifiers: chr17:g.70119763_70119764insGGGCGCCCCTTGCCAGAGGGGGGC (hg19) chr17:g.72123622_72123623insGGGCGCCCCTTGCCAGAGGGGGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123623_72123646dup , CM000679.2:g.72123623_72123646dup GRCh38
NC_000017.10:g.70119764_70119787dup , CM000679.1:g.70119764_70119787dup GRCh37
NC_000017.9:g.67631359_67631382dup NCBI36
NG_012490.1:g.7604_7627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.766_789dup MANE Select ENSP00000245479.2:p.Gly263_Arg264insGlyArgProLeuProGluGlyGly
ENST00000245479.2:c.766_789dup ENSP00000245479.2:p.Gly263_Arg264insGlyArgProLeuProGluGlyGly
NM_000346.3:c.766_789dup NP_000337.1:p.Gly263_Arg264insGlyArgProLeuProGluGlyGly
NM_000346.4:c.766_789dup MANE Select NP_000337.1:p.Gly263_Arg264insGlyArgProLeuProGluGlyGly
Search 100 bp 5'
Search 100 bp 3'