Canonical Allele Identifier: CA2404601853

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973086_37973090delinsCCTCA , CM000684.2:g.37973086_37973090delinsCCTCA	GRCh38
NC_000022.10:g.38369093_38369097delinsCCTCA , CM000684.1:g.38369093_38369097delinsCCTCA	GRCh37
NC_000022.9:g.36699039_36699043delinsCCTCA	NCBI36
NG_007948.1:g.16443_16447delinsTGAGG , LRG_271:g.16443_16447delinsTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*405_*409delinsTGAGG (SOX10)	ENSP00000513596.1:n.*405_*409delinsTGAGG
ENST00000690831.1:c.*1428_*1432delinsTGAGG (SOX10)	ENSP00000510381.1:n.*1428_*1432delinsTGAGG
ENST00000396884.8:c.*405_*409delinsTGAGG (SOX10) MANE Select	ENSP00000380093.2:n.*405_*409delinsTGAGG
ENST00000651746.1:c.166-2086_166-2082delinsTGAGG (SOX10)
ENST00000360880.6:c.*405_*409delinsTGAGG (SOX10)	ENSP00000354130.2:n.*405_*409delinsTGAGG
ENST00000396884.6:c.*405_*409delinsTGAGG (SOX10)	ENSP00000380093.2:n.*405_*409delinsTGAGG
ENST00000405557.5:c.293+5916_293+5920delinsCCTCA (POLR2F)	ENSP00000384112.1:n.293+5916_293+5920delinsCCTCA
ENST00000407936.5:c.293+5916_293+5920delinsCCTCA (POLR2F)	ENSP00000385725.1:n.293+5916_293+5920delinsCCTCA
ENST00000443002.5:c.*38+776_*38+780delinsCCTCA (POLR2F)	ENSP00000406826.1:n.*38+776_*38+780delinsCCTCA
ENST00000446929.5:c.482+954_482+958delinsTGAGG (SOX10)
NM_001301130.1:c.293+5916_293+5920delinsCCTCA (POLR2F)	NP_001288059.1:n.293+5916_293+5920delinsCCTCA
NM_001301131.1:c.293+5916_293+5920delinsCCTCA (POLR2F)	NP_001288060.1:n.293+5916_293+5920delinsCCTCA
NM_006941.3:c.*405_*409delinsTGAGG , LRG_271t1:c.*405_*409delinsTGAGG (SOX10)	NP_008872.1:n.*405_*409delinsTGAGG
XR_938243.1:n.158+776_158+780delinsCCTCA
NM_001363825.1:c.*38+776_*38+780delinsCCTCA (POLR2F)	NP_001350754.1:n.*38+776_*38+780delinsCCTCA
NM_001301130.2:c.293+5916_293+5920delinsCCTCA (POLR2F)	NP_001288059.1:n.293+5916_293+5920delinsCCTCA
NM_001301131.2:c.293+5916_293+5920delinsCCTCA (POLR2F)	NP_001288060.1:n.293+5916_293+5920delinsCCTCA
NM_006941.4:c.*405_*409delinsTGAGG (SOX10) MANE Select	NP_008872.1:n.*405_*409delinsTGAGG