Canonical Allele Identifier: CA645616846

Gene: SOX10 POLR2F

Linked Data

• COSMIC: COSM4971417

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977983_37977989del , CM000684.2:g.37977983_37977989del	GRCh38
NC_000022.10:g.38373990_38373996del , CM000684.1:g.38373990_38373996del	GRCh37
NC_000022.9:g.36703936_36703942del	NCBI36
NG_007948.1:g.11545_11551del , LRG_271:g.11545_11551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.792_798del (SOX10)	ENSP00000513596.1:p.Gly265ProfsTer?
ENST00000690831.1:c.*198_*204del (SOX10)	ENSP00000510381.1:n.*198_*204del
ENST00000396884.8:c.576_582del (SOX10) MANE Select	ENSP00000380093.2:p.Gly193ProfsTer?
ENST00000651746.1:c.44_50del (SOX10)
ENST00000360880.6:c.576_582del (SOX10)	ENSP00000354130.2:p.Gly193ProfsTer?
ENST00000396884.6:c.576_582del (SOX10)	ENSP00000380093.2:p.Gly193ProfsTer?
ENST00000405557.5:c.293+10813_293+10819del (POLR2F)	ENSP00000384112.1:n.293+10813_293+10819del
ENST00000407936.5:c.294-8171_294-8165del (POLR2F)	ENSP00000385725.1:n.294-8171_294-8165del
ENST00000427770.1:c.576_582del (SOX10)	ENSP00000414853.1:p.Gly193ProfsTer?
ENST00000443002.5:c.*38+5673_*38+5679del (POLR2F)	ENSP00000406826.1:n.*38+5673_*38+5679del
ENST00000446929.5:c.206_212del (SOX10)
NM_001301130.1:c.294-8171_294-8165del (POLR2F)	NP_001288059.1:n.294-8171_294-8165del
NM_001301131.1:c.293+10813_293+10819del (POLR2F)	NP_001288060.1:n.293+10813_293+10819del
NM_006941.3:c.576_582del , LRG_271t1:c.576_582del (SOX10)	NP_008872.1:p.Gly193ProfsTer?
XR_938243.1:n.158+5673_158+5679del
NM_001363825.1:c.*38+5673_*38+5679del (POLR2F)	NP_001350754.1:n.*38+5673_*38+5679del
NM_001301130.2:c.294-8171_294-8165del (POLR2F)	NP_001288059.1:n.294-8171_294-8165del
NM_001301131.2:c.293+10813_293+10819del (POLR2F)	NP_001288060.1:n.293+10813_293+10819del
NM_006941.4:c.576_582del (SOX10) MANE Select	NP_008872.1:p.Gly193ProfsTer?