Canonical Allele Identifier: CA645598935
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123966del , CM000679.2:g.72123966del GRCh38
NC_000017.10:g.70120107del , CM000679.1:g.70120107del GRCh37
NC_000017.9:g.67631702del NCBI36
NG_012490.1:g.7947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1109del MANE Select ENSP00000245479.2:p.Pro370ArgfsTer13
ENST00000245479.2:c.1109del ENSP00000245479.2:p.Pro370ArgfsTer13
NM_000346.3:c.1109del NP_000337.1:p.Pro370ArgfsTer13
NM_000346.4:c.1109del MANE Select NP_000337.1:p.Pro370ArgfsTer13