Canonical Allele Identifier: CA2404603964

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978313_37978341delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG , CM000684.2:g.37978313_37978341delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG	GRCh38
NC_000022.10:g.38374320_38374348delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG , CM000684.1:g.38374320_38374348delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG	GRCh37
NC_000022.9:g.36704266_36704294delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG	NCBI36
NG_007948.1:g.11192_11220delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA , LRG_271:g.11192_11220delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-206_645-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	ENSP00000513596.1:n.645-206_645-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000690831.1:c.*51-206_*51-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	ENSP00000510381.1:n.*51-206_*51-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000396884.8:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10) MANE Select	ENSP00000380093.2:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000360880.6:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	ENSP00000354130.2:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000396884.6:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	ENSP00000380093.2:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000405557.5:c.293+11143_293+11171delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	ENSP00000384112.1:n.293+11143_293+11171delinsTGAGGCCCAAGGAATA...
ENST00000407936.5:c.294-7841_294-7813delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	ENSP00000385725.1:n.294-7841_294-7813delinsTGAGGCCCAAGGAATAAC...
ENST00000427770.1:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	ENSP00000414853.1:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCT...
ENST00000443002.5:c.*38+6003_*38+6031delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	ENSP00000406826.1:n.*38+6003_*38+6031delinsTGAGGCCCAAGGAATAAC...
ENST00000446929.5:c.59-206_59-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)
ENST00000470555.1:n.71-206_71-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)
NM_001301130.1:c.294-7841_294-7813delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	NP_001288059.1:n.294-7841_294-7813delinsTGAGGCCCAAGGAATAACAGC...
NM_001301131.1:c.293+11143_293+11171delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	NP_001288060.1:n.293+11143_293+11171delinsTGAGGCCCAAGGAATAACA...
NM_006941.3:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA , LRG_271t1:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10)	NP_008872.1:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCC...
XR_938243.1:n.158+6003_158+6031delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG
NM_001363825.1:c.*38+6003_*38+6031delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	NP_001350754.1:n.*38+6003_*38+6031delinsTGAGGCCCAAGGAATAACAGC...
NM_001301130.2:c.294-7841_294-7813delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	NP_001288059.1:n.294-7841_294-7813delinsTGAGGCCCAAGGAATAACAGC...
NM_001301131.2:c.293+11143_293+11171delinsTGAGGCCCAAGGAATAACAGCCTCAGAGG (POLR2F)	NP_001288060.1:n.293+11143_293+11171delinsTGAGGCCCAAGGAATAACA...
NM_006941.4:c.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCCTCA (SOX10) MANE Select	NP_008872.1:n.429-206_429-178delinsCCTCTGAGGCTGTTATTCCTTGGGCC...