Canonical Allele Identifier: CA2639603160
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123911-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123915del , CM000679.2:g.72123915del GRCh38
NC_000017.10:g.70120056del , CM000679.1:g.70120056del GRCh37
NC_000017.9:g.67631651del NCBI36
NG_012490.1:g.7896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1058del MANE Select ENSP00000245479.2:p.Pro353ArgfsTer30
ENST00000245479.2:c.1058del ENSP00000245479.2:p.Pro353ArgfsTer30
NM_000346.3:c.1058del NP_000337.1:p.Pro353ArgfsTer30
NM_000346.4:c.1058del MANE Select NP_000337.1:p.Pro353ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'