Canonical Allele Identifier: CA645598834
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM4612643
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124057_72124058dup , CM000679.2:g.72124057_72124058dup GRCh38
NC_000017.10:g.70120198_70120199dup , CM000679.1:g.70120198_70120199dup GRCh37
NC_000017.9:g.67631793_67631794dup NCBI36
NG_012490.1:g.8038_8039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1200_1201dup MANE Select ENSP00000245479.2:p.Gln401ArgfsTer3
ENST00000245479.2:c.1200_1201dup ENSP00000245479.2:p.Gln401ArgfsTer3
NM_000346.3:c.1200_1201dup NP_000337.1:p.Gln401ArgfsTer3
NM_000346.4:c.1200_1201dup MANE Select NP_000337.1:p.Gln401ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'