Canonical Allele Identifier: CA2695230838

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978084_37978089dup , CM000684.2:g.37978084_37978089dup	GRCh38
NC_000022.10:g.38374091_38374096dup , CM000684.1:g.38374091_38374096dup	GRCh37
NC_000022.9:g.36704037_36704042dup	NCBI36
NG_007948.1:g.11446_11451dup , LRG_271:g.11446_11451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.693_698dup (SOX10)	ENSP00000513596.1:p.Arg233_Met234insLeuArg
ENST00000690831.1:c.*99_*104dup (SOX10)	ENSP00000510381.1:n.*99_*104dup
ENST00000396884.8:c.477_482dup (SOX10) MANE Select	ENSP00000380093.2:p.Arg161_Met162insLeuArg
ENST00000360880.6:c.477_482dup (SOX10)	ENSP00000354130.2:p.Arg161_Met162insLeuArg
ENST00000396884.6:c.477_482dup (SOX10)	ENSP00000380093.2:p.Arg161_Met162insLeuArg
ENST00000405557.5:c.293+10914_293+10919dup (POLR2F)	ENSP00000384112.1:n.293+10914_293+10919dup
ENST00000407936.5:c.294-8070_294-8065dup (POLR2F)	ENSP00000385725.1:n.294-8070_294-8065dup
ENST00000427770.1:c.477_482dup (SOX10)	ENSP00000414853.1:p.Arg161_Met162insLeuArg
ENST00000443002.5:c.*38+5774_*38+5779dup (POLR2F)	ENSP00000406826.1:n.*38+5774_*38+5779dup
ENST00000446929.5:c.107_112dup (SOX10)
NM_001301130.1:c.294-8070_294-8065dup (POLR2F)	NP_001288059.1:n.294-8070_294-8065dup
NM_001301131.1:c.293+10914_293+10919dup (POLR2F)	NP_001288060.1:n.293+10914_293+10919dup
NM_006941.3:c.477_482dup , LRG_271t1:c.477_482dup (SOX10)	NP_008872.1:p.Arg161_Met162insLeuArg
XR_938243.1:n.158+5774_158+5779dup
NM_001363825.1:c.*38+5774_*38+5779dup (POLR2F)	NP_001350754.1:n.*38+5774_*38+5779dup
NM_001301130.2:c.294-8070_294-8065dup (POLR2F)	NP_001288059.1:n.294-8070_294-8065dup
NM_001301131.2:c.293+10914_293+10919dup (POLR2F)	NP_001288060.1:n.293+10914_293+10919dup
NM_006941.4:c.477_482dup (SOX10) MANE Select	NP_008872.1:p.Arg161_Met162insLeuArg