Canonical Allele Identifier: CA8739088
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs762558883
ExAC: 17:70120075 CCCGCAGCCGCAGGCGGCG / C
gnomAD v2: 17-70120075-CCCGCAGCCGCAGGCGGCG-C
gnomAD v4: 17-72123934-CCCGCAGCCGCAGGCGGCG-C
MyVariant Identifiers: chr17:g.70120076_70120093del (hg19) chr17:g.72123935_72123952del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123937_72123954del , CM000679.2:g.72123937_72123954del GRCh38
NC_000017.10:g.70120078_70120095del , CM000679.1:g.70120078_70120095del GRCh37
NC_000017.9:g.67631673_67631690del NCBI36
NG_012490.1:g.7918_7935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1080_1097del MANE Select ENSP00000245479.2:p.Gln361_Pro366del
ENST00000245479.2:c.1080_1097del ENSP00000245479.2:p.Gln361_Pro366del
NM_000346.3:c.1080_1097del NP_000337.1:p.Gln361_Pro366del
NM_000346.4:c.1080_1097del MANE Select NP_000337.1:p.Gln361_Pro366del
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