Canonical Allele Identifier: CA2404603811

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977958_37977960delinsGGC , CM000684.2:g.37977958_37977960delinsGGC	GRCh38
NC_000022.10:g.38373965_38373967delinsGGC , CM000684.1:g.38373965_38373967delinsGGC	GRCh37
NC_000022.9:g.36703911_36703913delinsGGC	NCBI36
NG_007948.1:g.11573_11575delinsGCC , LRG_271:g.11573_11575delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.820_822delinsGCC (SOX10)	ENSP00000513596.1:p.Ala274=
ENST00000690831.1:c.*226_*228delinsGCC (SOX10)	ENSP00000510381.1:n.*226_*228delinsGCC
ENST00000396884.8:c.604_606delinsGCC (SOX10) MANE Select	ENSP00000380093.2:p.Ala202=
ENST00000651746.1:c.72_74delinsGCC (SOX10)
ENST00000360880.6:c.604_606delinsGCC (SOX10)	ENSP00000354130.2:p.Ala202=
ENST00000396884.6:c.604_606delinsGCC (SOX10)	ENSP00000380093.2:p.Ala202=
ENST00000405557.5:c.293+10788_293+10790delinsGGC (POLR2F)	ENSP00000384112.1:n.293+10788_293+10790delinsGGC
ENST00000407936.5:c.294-8196_294-8194delinsGGC (POLR2F)	ENSP00000385725.1:n.294-8196_294-8194delinsGGC
ENST00000427770.1:c.604_606delinsGCC (SOX10)	ENSP00000414853.1:p.Ala202=
ENST00000443002.5:c.*38+5648_*38+5650delinsGGC (POLR2F)	ENSP00000406826.1:n.*38+5648_*38+5650delinsGGC
ENST00000446929.5:c.234_236delinsGCC (SOX10)
NM_001301130.1:c.294-8196_294-8194delinsGGC (POLR2F)	NP_001288059.1:n.294-8196_294-8194delinsGGC
NM_001301131.1:c.293+10788_293+10790delinsGGC (POLR2F)	NP_001288060.1:n.293+10788_293+10790delinsGGC
NM_006941.3:c.604_606delinsGCC , LRG_271t1:c.604_606delinsGCC (SOX10)	NP_008872.1:p.Ala202=
XR_938243.1:n.158+5648_158+5650delinsGGC
NM_001363825.1:c.*38+5648_*38+5650delinsGGC (POLR2F)	NP_001350754.1:n.*38+5648_*38+5650delinsGGC
NM_001301130.2:c.294-8196_294-8194delinsGGC (POLR2F)	NP_001288059.1:n.294-8196_294-8194delinsGGC
NM_001301131.2:c.293+10788_293+10790delinsGGC (POLR2F)	NP_001288060.1:n.293+10788_293+10790delinsGGC
NM_006941.4:c.604_606delinsGCC (SOX10) MANE Select	NP_008872.1:p.Ala202=