Canonical Allele Identifier: CA2404601858

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973095_37973097delinsCTG , CM000684.2:g.37973095_37973097delinsCTG	GRCh38
NC_000022.10:g.38369102_38369104delinsCTG , CM000684.1:g.38369102_38369104delinsCTG	GRCh37
NC_000022.9:g.36699048_36699050delinsCTG	NCBI36
NG_007948.1:g.16436_16438delinsCAG , LRG_271:g.16436_16438delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*398_*400delinsCAG (SOX10)	ENSP00000513596.1:n.*398_*400delinsCAG
ENST00000690831.1:c.*1421_*1423delinsCAG (SOX10)	ENSP00000510381.1:n.*1421_*1423delinsCAG
ENST00000396884.8:c.*398_*400delinsCAG (SOX10) MANE Select	ENSP00000380093.2:n.*398_*400delinsCAG
ENST00000651746.1:c.166-2093_166-2091delinsCAG (SOX10)
ENST00000360880.6:c.*398_*400delinsCAG (SOX10)	ENSP00000354130.2:n.*398_*400delinsCAG
ENST00000396884.6:c.*398_*400delinsCAG (SOX10)	ENSP00000380093.2:n.*398_*400delinsCAG
ENST00000405557.5:c.293+5925_293+5927delinsCTG (POLR2F)	ENSP00000384112.1:n.293+5925_293+5927delinsCTG
ENST00000407936.5:c.293+5925_293+5927delinsCTG (POLR2F)	ENSP00000385725.1:n.293+5925_293+5927delinsCTG
ENST00000443002.5:c.*38+785_*38+787delinsCTG (POLR2F)	ENSP00000406826.1:n.*38+785_*38+787delinsCTG
ENST00000446929.5:c.482+947_482+949delinsCAG (SOX10)
NM_001301130.1:c.293+5925_293+5927delinsCTG (POLR2F)	NP_001288059.1:n.293+5925_293+5927delinsCTG
NM_001301131.1:c.293+5925_293+5927delinsCTG (POLR2F)	NP_001288060.1:n.293+5925_293+5927delinsCTG
NM_006941.3:c.*398_*400delinsCAG , LRG_271t1:c.*398_*400delinsCAG (SOX10)	NP_008872.1:n.*398_*400delinsCAG
XR_938243.1:n.158+785_158+787delinsCTG
NM_001363825.1:c.*38+785_*38+787delinsCTG (POLR2F)	NP_001350754.1:n.*38+785_*38+787delinsCTG
NM_001301130.2:c.293+5925_293+5927delinsCTG (POLR2F)	NP_001288059.1:n.293+5925_293+5927delinsCTG
NM_001301131.2:c.293+5925_293+5927delinsCTG (POLR2F)	NP_001288060.1:n.293+5925_293+5927delinsCTG
NM_006941.4:c.*398_*400delinsCAG (SOX10) MANE Select	NP_008872.1:n.*398_*400delinsCAG