Canonical Allele Identifier: CA2404602075

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973451_37973452delinsTG , CM000684.2:g.37973451_37973452delinsTG	GRCh38
NC_000022.10:g.38369458_38369459delinsTG , CM000684.1:g.38369458_38369459delinsTG	GRCh37
NC_000022.9:g.36699404_36699405delinsTG	NCBI36
NG_007948.1:g.16081_16082delinsCA , LRG_271:g.16081_16082delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*43_*44delinsCA (SOX10)	ENSP00000513596.1:n.*43_*44delinsCA
ENST00000690831.1:c.*1066_*1067delinsCA (SOX10)	ENSP00000510381.1:n.*1066_*1067delinsCA
ENST00000396884.8:c.*43_*44delinsCA (SOX10) MANE Select	ENSP00000380093.2:n.*43_*44delinsCA
ENST00000651746.1:c.166-2448_166-2447delinsCA (SOX10)
ENST00000360880.6:c.*43_*44delinsCA (SOX10)	ENSP00000354130.2:n.*43_*44delinsCA
ENST00000396884.6:c.*43_*44delinsCA (SOX10)	ENSP00000380093.2:n.*43_*44delinsCA
ENST00000405557.5:c.293+6281_293+6282delinsTG (POLR2F)	ENSP00000384112.1:n.293+6281_293+6282delinsTG
ENST00000407936.5:c.293+6281_293+6282delinsTG (POLR2F)	ENSP00000385725.1:n.293+6281_293+6282delinsTG
ENST00000443002.5:c.*38+1141_*38+1142delinsTG (POLR2F)	ENSP00000406826.1:n.*38+1141_*38+1142delinsTG
ENST00000446929.5:c.482+592_482+593delinsCA (SOX10)
NM_001301130.1:c.293+6281_293+6282delinsTG (POLR2F)	NP_001288059.1:n.293+6281_293+6282delinsTG
NM_001301131.1:c.293+6281_293+6282delinsTG (POLR2F)	NP_001288060.1:n.293+6281_293+6282delinsTG
NM_006941.3:c.*43_*44delinsCA , LRG_271t1:c.*43_*44delinsCA (SOX10)	NP_008872.1:n.*43_*44delinsCA
XR_938243.1:n.158+1141_158+1142delinsTG
NM_001363825.1:c.*38+1141_*38+1142delinsTG (POLR2F)	NP_001350754.1:n.*38+1141_*38+1142delinsTG
NM_001301130.2:c.293+6281_293+6282delinsTG (POLR2F)	NP_001288059.1:n.293+6281_293+6282delinsTG
NM_001301131.2:c.293+6281_293+6282delinsTG (POLR2F)	NP_001288060.1:n.293+6281_293+6282delinsTG
NM_006941.4:c.*43_*44delinsCA (SOX10) MANE Select	NP_008872.1:n.*43_*44delinsCA