Canonical Allele Identifier: CA2404601830

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973025_37973031delinsACAGTCT , CM000684.2:g.37973025_37973031delinsACAGTCT	GRCh38
NC_000022.10:g.38369032_38369038delinsACAGTCT , CM000684.1:g.38369032_38369038delinsACAGTCT	GRCh37
NC_000022.9:g.36698978_36698984delinsACAGTCT	NCBI36
NG_007948.1:g.16502_16508delinsAGACTGT , LRG_271:g.16502_16508delinsAGACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*464_*470delinsAGACTGT (SOX10)	ENSP00000513596.1:n.*464_*470delinsAGACTGT
ENST00000690831.1:c.*1487_*1493delinsAGACTGT (SOX10)	ENSP00000510381.1:n.*1487_*1493delinsAGACTGT
ENST00000396884.8:c.*464_*470delinsAGACTGT (SOX10) MANE Select	ENSP00000380093.2:n.*464_*470delinsAGACTGT
ENST00000651746.1:c.166-2027_166-2021delinsAGACTGT (SOX10)
ENST00000360880.6:c.*464_*470delinsAGACTGT (SOX10)	ENSP00000354130.2:n.*464_*470delinsAGACTGT
ENST00000396884.6:c.*464_*470delinsAGACTGT (SOX10)	ENSP00000380093.2:n.*464_*470delinsAGACTGT
ENST00000405557.5:c.293+5855_293+5861delinsACAGTCT (POLR2F)	ENSP00000384112.1:n.293+5855_293+5861delinsACAGTCT
ENST00000407936.5:c.293+5855_293+5861delinsACAGTCT (POLR2F)	ENSP00000385725.1:n.293+5855_293+5861delinsACAGTCT
ENST00000443002.5:c.*38+715_*38+721delinsACAGTCT (POLR2F)	ENSP00000406826.1:n.*38+715_*38+721delinsACAGTCT
ENST00000446929.5:c.482+1013_482+1019delinsAGACTGT (SOX10)
NM_001301130.1:c.293+5855_293+5861delinsACAGTCT (POLR2F)	NP_001288059.1:n.293+5855_293+5861delinsACAGTCT
NM_001301131.1:c.293+5855_293+5861delinsACAGTCT (POLR2F)	NP_001288060.1:n.293+5855_293+5861delinsACAGTCT
NM_006941.3:c.*464_*470delinsAGACTGT , LRG_271t1:c.*464_*470delinsAGACTGT (SOX10)	NP_008872.1:n.*464_*470delinsAGACTGT
XR_938243.1:n.158+715_158+721delinsACAGTCT
NM_001363825.1:c.*38+715_*38+721delinsACAGTCT (POLR2F)	NP_001350754.1:n.*38+715_*38+721delinsACAGTCT
NM_001301130.2:c.293+5855_293+5861delinsACAGTCT (POLR2F)	NP_001288059.1:n.293+5855_293+5861delinsACAGTCT
NM_001301131.2:c.293+5855_293+5861delinsACAGTCT (POLR2F)	NP_001288060.1:n.293+5855_293+5861delinsACAGTCT
NM_006941.4:c.*464_*470delinsAGACTGT (SOX10) MANE Select	NP_008872.1:n.*464_*470delinsAGACTGT