Canonical Allele Identifier: CA1954821526

Gene: SOX6 C11orf58

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16735301_16735318delinsGACACTAACCATCACTGA , CM000673.2:g.16735301_16735318delinsGACACTAACCATCACTGA	GRCh38
NC_000011.9:g.16756848_16756865delinsGACACTAACCATCACTGA , CM000673.1:g.16756848_16756865delinsGACACTAACCATCACTGA	GRCh37
NC_000011.8:g.16713424_16713441delinsGACACTAACCATCACTGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524520.5:n.353+1021_353+1038delinsTCAGTGATGGTTAGTGTC (SOX6)
ENST00000525259.1:n.267+1021_267+1038delinsTCAGTGATGGTTAGTGTC (SOX6)
ENST00000527893.5:n.405-9300_405-9283delinsGACACTAACCATCACTGA (C11orf58)
ENST00000530378.5:c.-335+1021_-335+1038delinsTCAGTGATGGTTAGTGTC (SOX6)	ENSP00000432577.1:n.-335+1021_-335+1038delinsTCAGTGATGGTTAGTG...
NM_001367872.1:c.-261+3107_-261+3124delinsTCAGTGATGGTTAGTGTC (SOX6)	NP_001354801.1:n.-261+3107_-261+3124delinsTCAGTGATGGTTAGTGTC