Canonical Allele Identifier: CA2273925939
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122854_72122857delinsAGAG , CM000679.2:g.72122854_72122857delinsAGAG GRCh38
NC_000017.10:g.70118995_70118998delinsAGAG , CM000679.1:g.70118995_70118998delinsAGAG GRCh37
NC_000017.9:g.67630590_67630593delinsAGAG NCBI36
NG_012490.1:g.6835_6838delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.567_570delinsAGAG MANE Select ENSP00000245479.2:p.Ala189=
ENST00000245479.2:c.567_570delinsAGAG ENSP00000245479.2:p.Ala189=
NM_000346.3:c.567_570delinsAGAG NP_000337.1:p.Ala189=
NM_000346.4:c.567_570delinsAGAG MANE Select NP_000337.1:p.Ala189=
Search 100 bp 5'
Search 100 bp 3'