Canonical Allele Identifier: CA986080770
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908193996
gnomAD v3: 17-72123907-A-AAAGGCCCCG
gnomAD v4: 17-72123907-A-AAAGGCCCCG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123907_72123908insAAGGCCCCG , CM000679.2:g.72123907_72123908insAAGGCCCCG GRCh38
NC_000017.10:g.70120048_70120049insAAGGCCCCG , CM000679.1:g.70120048_70120049insAAGGCCCCG GRCh37
NC_000017.9:g.67631643_67631644insAAGGCCCCG NCBI36
NG_012490.1:g.7888_7889insAAGGCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1050_1051insAAGGCCCCG MANE Select ENSP00000245479.2:p.Pro350_Gln351insLysAlaPro
ENST00000245479.2:c.1050_1051insAAGGCCCCG ENSP00000245479.2:p.Pro350_Gln351insLysAlaPro
NM_000346.3:c.1050_1051insAAGGCCCCG NP_000337.1:p.Pro350_Gln351insLysAlaPro
NM_000346.4:c.1050_1051insAAGGCCCCG MANE Select NP_000337.1:p.Pro350_Gln351insLysAlaPro
Search 100 bp 5'
Search 100 bp 3'