Canonical Allele Identifier: CA293783103
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1019408912
MyVariant Identifiers: chr17:g.70119563del (hg19) chr17:g.72123422del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123422del , CM000679.2:g.72123422del GRCh38
NC_000017.10:g.70119563del , CM000679.1:g.70119563del GRCh37
NC_000017.9:g.67631158del NCBI36
NG_012490.1:g.7403del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-121del MANE Select ENSP00000245479.2:n.686-121del
ENST00000245479.2:c.686-121del ENSP00000245479.2:n.686-121del
NM_000346.3:c.686-121del NP_000337.1:n.686-121del
NM_000346.4:c.686-121del MANE Select NP_000337.1:n.686-121del
Search 100 bp 5'
Search 100 bp 3'