Canonical Allele Identifier: CA2404606298

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932470069

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983578_37983579insACTTATTGTTCCTGTA , CM000684.2:g.37983578_37983579insACTTATTGTTCCTGTA	GRCh38
NC_000022.10:g.38379585_38379586insACTTATTGTTCCTGTA , CM000684.1:g.38379585_38379586insACTTATTGTTCCTGTA	GRCh37
NC_000022.9:g.36709531_36709532insACTTATTGTTCCTGTA	NCBI36
NG_007948.1:g.5954_5955insTACAGGAACAATAAGT , LRG_271:g.5954_5955insTACAGGAACAATAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.422_423insTACAGGAACAATAAGT (SOX10)	ENSP00000513596.1:p.Val142ThrfsTer?
ENST00000690831.1:c.206_207insTACAGGAACAATAAGT (SOX10)	ENSP00000510381.1:p.Val70ThrfsTer?
ENST00000396884.8:c.206_207insTACAGGAACAATAAGT (SOX10) MANE Select	ENSP00000380093.2:p.Val70ThrfsTer?
ENST00000652356.1:n.495_496insTACAGGAACAATAAGT (SOX10)
ENST00000360880.6:c.206_207insTACAGGAACAATAAGT (SOX10)	ENSP00000354130.2:p.Val70ThrfsTer?
ENST00000396884.6:c.206_207insTACAGGAACAATAAGT (SOX10)	ENSP00000380093.2:p.Val70ThrfsTer?
ENST00000405557.5:c.293+16408_293+16409insACTTATTGTTCCTGTA (POLR2F)	ENSP00000384112.1:n.293+16408_293+16409insACTTATTGTTCCTGTA
ENST00000407936.5:c.294-2576_294-2575insACTTATTGTTCCTGTA (POLR2F)	ENSP00000385725.1:n.294-2576_294-2575insACTTATTGTTCCTGTA
ENST00000427770.1:c.206_207insTACAGGAACAATAAGT (SOX10)	ENSP00000414853.1:p.Val70ThrfsTer?
ENST00000443002.5:c.*39-1474_*39-1473insACTTATTGTTCCTGTA (POLR2F)	ENSP00000406826.1:n.*39-1474_*39-1473insACTTATTGTTCCTGTA
ENST00000470555.1:n.70+760_70+761insTACAGGAACAATAAGT (SOX10)
NM_001301130.1:c.294-2576_294-2575insACTTATTGTTCCTGTA (POLR2F)	NP_001288059.1:n.294-2576_294-2575insACTTATTGTTCCTGTA
NM_001301131.1:c.293+16408_293+16409insACTTATTGTTCCTGTA (POLR2F)	NP_001288060.1:n.293+16408_293+16409insACTTATTGTTCCTGTA
NM_006941.3:c.206_207insTACAGGAACAATAAGT , LRG_271t1:c.206_207insTACAGGAACAATAAGT (SOX10)	NP_008872.1:p.Val70ThrfsTer?
XR_938243.1:n.158+11268_158+11269insACTTATTGTTCCTGTA
NM_001363825.1:c.*38+11268_*38+11269insACTTATTGTTCCTGTA (POLR2F)	NP_001350754.1:n.*38+11268_*38+11269insACTTATTGTTCCTGTA
NM_001301130.2:c.294-2576_294-2575insACTTATTGTTCCTGTA (POLR2F)	NP_001288059.1:n.294-2576_294-2575insACTTATTGTTCCTGTA
NM_001301131.2:c.293+16408_293+16409insACTTATTGTTCCTGTA (POLR2F)	NP_001288060.1:n.293+16408_293+16409insACTTATTGTTCCTGTA
NM_006941.4:c.206_207insTACAGGAACAATAAGT (SOX10) MANE Select	NP_008872.1:p.Val70ThrfsTer?