Canonical Allele Identifier: CA627589964
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1285618285
gnomAD v2: 17-70120070-GCGCCCCCGCAGC-G
gnomAD v3: 17-72123929-GCGCCCCCGCAGC-G
gnomAD v4: 17-72123929-GCGCCCCCGCAGC-G
MyVariant Identifiers: chr17:g.70120071_70120082del (hg19) chr17:g.72123930_72123941del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123933_72123944del , CM000679.2:g.72123933_72123944del GRCh38
NC_000017.10:g.70120074_70120085del , CM000679.1:g.70120074_70120085del GRCh37
NC_000017.9:g.67631669_67631680del NCBI36
NG_012490.1:g.7914_7925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1076_1087del MANE Select ENSP00000245479.2:p.Pro359_Pro362del
ENST00000245479.2:c.1076_1087del ENSP00000245479.2:p.Pro359_Pro362del
NM_000346.3:c.1076_1087del NP_000337.1:p.Pro359_Pro362del
NM_000346.4:c.1076_1087del MANE Select NP_000337.1:p.Pro359_Pro362del
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