Canonical Allele Identifier: CA2404603835

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978003_37978004delinsCT , CM000684.2:g.37978003_37978004delinsCT	GRCh38
NC_000022.10:g.38374010_38374011delinsCT , CM000684.1:g.38374010_38374011delinsCT	GRCh37
NC_000022.9:g.36703956_36703957delinsCT	NCBI36
NG_007948.1:g.11529_11530delinsAG , LRG_271:g.11529_11530delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.776_777delinsAG (SOX10)	ENSP00000513596.1:p.Glu259=
ENST00000690831.1:c.*182_*183delinsAG (SOX10)	ENSP00000510381.1:n.*182_*183delinsAG
ENST00000396884.8:c.560_561delinsAG (SOX10) MANE Select	ENSP00000380093.2:p.Glu187=
ENST00000651746.1:c.28_29delinsAG (SOX10)
ENST00000360880.6:c.560_561delinsAG (SOX10)	ENSP00000354130.2:p.Glu187=
ENST00000396884.6:c.560_561delinsAG (SOX10)	ENSP00000380093.2:p.Glu187=
ENST00000405557.5:c.293+10833_293+10834delinsCT (POLR2F)	ENSP00000384112.1:n.293+10833_293+10834de...
ENST00000407936.5:c.294-8151_294-8150delinsCT (POLR2F)	ENSP00000385725.1:n.294-8151_294-8150deli...
ENST00000427770.1:c.560_561delinsAG (SOX10)	ENSP00000414853.1:p.Glu187=
ENST00000443002.5:c.*38+5693_*38+5694delinsCT (POLR2F)	ENSP00000406826.1:n.*38+5693_*38+5694deli...
ENST00000446929.5:c.190_191delinsAG (SOX10)
NM_001301130.1:c.294-8151_294-8150delinsCT (POLR2F)	NP_001288059.1:n.294-8151_294-8150delinsC...
NM_001301131.1:c.293+10833_293+10834delinsCT (POLR2F)	NP_001288060.1:n.293+10833_293+10834delin...
NM_006941.3:c.560_561delinsAG , LRG_271t1:c.560_561delinsAG (SOX10)	NP_008872.1:p.Glu187=
XR_938243.1:n.158+5693_158+5694delinsCT
NM_001363825.1:c.*38+5693_*38+5694delinsCT (POLR2F)	NP_001350754.1:n.*38+5693_*38+5694delinsC...
NM_001301130.2:c.294-8151_294-8150delinsCT (POLR2F)	NP_001288059.1:n.294-8151_294-8150delinsC...
NM_001301131.2:c.293+10833_293+10834delinsCT (POLR2F)	NP_001288060.1:n.293+10833_293+10834delin...
NM_006941.4:c.560_561delinsAG (SOX10) MANE Select	NP_008872.1:p.Glu187=