Canonical Allele Identifier: CA2576374517
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123940_72123941insGCC , CM000679.2:g.72123940_72123941insGCC GRCh38
NC_000017.10:g.70120081_70120082insGCC , CM000679.1:g.70120081_70120082insGCC GRCh37
NC_000017.9:g.67631676_67631677insGCC NCBI36
NG_012490.1:g.7921_7922insGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1083_1084insGCC MANE Select ENSP00000245479.2:p.Gln361_Pro362insAla
ENST00000245479.2:c.1083_1084insGCC ENSP00000245479.2:p.Gln361_Pro362insAla
NM_000346.3:c.1083_1084insGCC NP_000337.1:p.Gln361_Pro362insAla
NM_000346.4:c.1083_1084insGCC MANE Select NP_000337.1:p.Gln361_Pro362insAla
Search 100 bp 5'
Search 100 bp 3'