Canonical Allele Identifier: CA2404603880

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978133_37978134delinsAG , CM000684.2:g.37978133_37978134delinsAG	GRCh38
NC_000022.10:g.38374140_38374141delinsAG , CM000684.1:g.38374140_38374141delinsAG	GRCh37
NC_000022.9:g.36704086_36704087delinsAG	NCBI36
NG_007948.1:g.11399_11400delinsCT , LRG_271:g.11399_11400delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.646_647delinsCT (SOX10)	ENSP00000513596.1:p.Leu216=
ENST00000690831.1:c.*52_*53delinsCT (SOX10)	ENSP00000510381.1:n.*52_*53delinsCT
ENST00000396884.8:c.430_431delinsCT (SOX10) MANE Select	ENSP00000380093.2:p.Leu144=
ENST00000360880.6:c.430_431delinsCT (SOX10)	ENSP00000354130.2:p.Leu144=
ENST00000396884.6:c.430_431delinsCT (SOX10)	ENSP00000380093.2:p.Leu144=
ENST00000405557.5:c.293+10963_293+10964delinsAG (POLR2F)	ENSP00000384112.1:n.293+10963_293+10964delinsAG
ENST00000407936.5:c.294-8021_294-8020delinsAG (POLR2F)	ENSP00000385725.1:n.294-8021_294-8020delinsAG
ENST00000427770.1:c.430_431delinsCT (SOX10)	ENSP00000414853.1:p.Leu144=
ENST00000443002.5:c.*38+5823_*38+5824delinsAG (POLR2F)	ENSP00000406826.1:n.*38+5823_*38+5824delinsAG
ENST00000446929.5:c.60_61delinsCT (SOX10)
ENST00000470555.1:n.72_73delinsCT (SOX10)
NM_001301130.1:c.294-8021_294-8020delinsAG (POLR2F)	NP_001288059.1:n.294-8021_294-8020delinsAG
NM_001301131.1:c.293+10963_293+10964delinsAG (POLR2F)	NP_001288060.1:n.293+10963_293+10964delinsAG
NM_006941.3:c.430_431delinsCT , LRG_271t1:c.430_431delinsCT (SOX10)	NP_008872.1:p.Leu144=
XR_938243.1:n.158+5823_158+5824delinsAG
NM_001363825.1:c.*38+5823_*38+5824delinsAG (POLR2F)	NP_001350754.1:n.*38+5823_*38+5824delinsAG
NM_001301130.2:c.294-8021_294-8020delinsAG (POLR2F)	NP_001288059.1:n.294-8021_294-8020delinsAG
NM_001301131.2:c.293+10963_293+10964delinsAG (POLR2F)	NP_001288060.1:n.293+10963_293+10964delinsAG
NM_006941.4:c.430_431delinsCT (SOX10) MANE Select	NP_008872.1:p.Leu144=