Canonical Allele Identifier: CA2695230853

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983632_37983651del , CM000684.2:g.37983632_37983651del	GRCh38
NC_000022.10:g.38379639_38379658del , CM000684.1:g.38379639_38379658del	GRCh37
NC_000022.9:g.36709585_36709604del	NCBI36
NG_007948.1:g.5883_5902del , LRG_271:g.5883_5902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.351_370del (SOX10)	ENSP00000513596.1:p.Ser117ArgfsTer15
ENST00000690831.1:c.135_154del (SOX10)	ENSP00000510381.1:p.Ser45ArgfsTer15
ENST00000396884.8:c.135_154del (SOX10) MANE Select	ENSP00000380093.2:p.Ser45ArgfsTer15
ENST00000652356.1:n.424_443del (SOX10)
ENST00000360880.6:c.135_154del (SOX10)	ENSP00000354130.2:p.Ser45ArgfsTer15
ENST00000396884.6:c.135_154del (SOX10)	ENSP00000380093.2:p.Ser45ArgfsTer15
ENST00000405557.5:c.293+16462_293+16481del (POLR2F)	ENSP00000384112.1:n.293+16462_293+16481del
ENST00000407936.5:c.294-2522_294-2503del (POLR2F)	ENSP00000385725.1:n.294-2522_294-2503del
ENST00000427770.1:c.135_154del (SOX10)	ENSP00000414853.1:p.Ser45ArgfsTer15
ENST00000443002.5:c.*39-1420_*39-1401del (POLR2F)	ENSP00000406826.1:n.*39-1420_*39-1401del
ENST00000470555.1:n.70+689_70+708del (SOX10)
NM_001301130.1:c.294-2522_294-2503del (POLR2F)	NP_001288059.1:n.294-2522_294-2503del
NM_001301131.1:c.293+16462_293+16481del (POLR2F)	NP_001288060.1:n.293+16462_293+16481del
NM_006941.3:c.135_154del , LRG_271t1:c.135_154del (SOX10)	NP_008872.1:p.Ser45ArgfsTer15
XR_938243.1:n.158+11322_158+11341del
NM_001363825.1:c.*38+11322_*38+11341del (POLR2F)	NP_001350754.1:n.*38+11322_*38+11341del
NM_001301130.2:c.294-2522_294-2503del (POLR2F)	NP_001288059.1:n.294-2522_294-2503del
NM_001301131.2:c.293+16462_293+16481del (POLR2F)	NP_001288060.1:n.293+16462_293+16481del
NM_006941.4:c.135_154del (SOX10) MANE Select	NP_008872.1:p.Ser45ArgfsTer15