Canonical Allele Identifier: CA2404606260

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983484_37983487delinsTGCT , CM000684.2:g.37983484_37983487delinsTGCT	GRCh38
NC_000022.10:g.38379491_38379494delinsTGCT , CM000684.1:g.38379491_38379494delinsTGCT	GRCh37
NC_000022.9:g.36709437_36709440delinsTGCT	NCBI36
NG_007948.1:g.6046_6049delinsAGCA , LRG_271:g.6046_6049delinsAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.514_517delinsAGCA (SOX10)	ENSP00000513596.1:p.Ser172=
ENST00000690831.1:c.298_301delinsAGCA (SOX10)	ENSP00000510381.1:p.Ser100=
ENST00000396884.8:c.298_301delinsAGCA (SOX10) MANE Select	ENSP00000380093.2:p.Ser100=
ENST00000652356.1:n.587_590delinsAGCA (SOX10)
ENST00000360880.6:c.298_301delinsAGCA (SOX10)	ENSP00000354130.2:p.Ser100=
ENST00000396884.6:c.298_301delinsAGCA (SOX10)	ENSP00000380093.2:p.Ser100=
ENST00000405557.5:c.293+16314_293+16317delinsTGCT (POLR2F)	ENSP00000384112.1:n.293+16314_293+16317delinsTGCT
ENST00000407936.5:c.294-2670_294-2667delinsTGCT (POLR2F)	ENSP00000385725.1:n.294-2670_294-2667delinsTGCT
ENST00000427770.1:c.298_301delinsAGCA (SOX10)	ENSP00000414853.1:p.Ser100=
ENST00000443002.5:c.*39-1568_*39-1565delinsTGCT (POLR2F)	ENSP00000406826.1:n.*39-1568_*39-1565delinsTGCT
ENST00000470555.1:n.70+852_70+855delinsAGCA (SOX10)
NM_001301130.1:c.294-2670_294-2667delinsTGCT (POLR2F)	NP_001288059.1:n.294-2670_294-2667delinsTGCT
NM_001301131.1:c.293+16314_293+16317delinsTGCT (POLR2F)	NP_001288060.1:n.293+16314_293+16317delinsTGCT
NM_006941.3:c.298_301delinsAGCA , LRG_271t1:c.298_301delinsAGCA (SOX10)	NP_008872.1:p.Ser100=
XR_938243.1:n.158+11174_158+11177delinsTGCT
NM_001363825.1:c.*38+11174_*38+11177delinsTGCT (POLR2F)	NP_001350754.1:n.*38+11174_*38+11177delinsTGCT
NM_001301130.2:c.294-2670_294-2667delinsTGCT (POLR2F)	NP_001288059.1:n.294-2670_294-2667delinsTGCT
NM_001301131.2:c.293+16314_293+16317delinsTGCT (POLR2F)	NP_001288060.1:n.293+16314_293+16317delinsTGCT
NM_006941.4:c.298_301delinsAGCA (SOX10) MANE Select	NP_008872.1:p.Ser100=