Canonical Allele Identifier: CA2580099757

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 2445675
• ClinVar RCV Id: RCV003155594

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973700_37973701del , CM000684.2:g.37973700_37973701del	GRCh38
NC_000022.10:g.38369707_38369708del , CM000684.1:g.38369707_38369708del	GRCh37
NC_000022.9:g.36699653_36699654del	NCBI36
NG_007948.1:g.15832_15833del , LRG_271:g.15832_15833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1411_1412del (SOX10)	ENSP00000513596.1:p.Gln471ValfsTer2
ENST00000690831.1:c.*817_*818del (SOX10)	ENSP00000510381.1:n.*817_*818del
ENST00000396884.8:c.1195_1196del (SOX10) MANE Select	ENSP00000380093.2:p.Gln399ValfsTer2
ENST00000651746.1:c.166-2697_166-2696del (SOX10)
ENST00000360880.6:c.1195_1196del (SOX10)	ENSP00000354130.2:p.Gln399ValfsTer2
ENST00000396884.6:c.1195_1196del (SOX10)	ENSP00000380093.2:p.Gln399ValfsTer2
ENST00000405557.5:c.293+6530_293+6531del (POLR2F)	ENSP00000384112.1:n.293+6530_293+6531del
ENST00000407936.5:c.293+6530_293+6531del (POLR2F)	ENSP00000385725.1:n.293+6530_293+6531del
ENST00000443002.5:c.*38+1390_*38+1391del (POLR2F)	ENSP00000406826.1:n.*38+1390_*38+1391del
ENST00000446929.5:c.482+343_482+344del (SOX10)
NM_001301130.1:c.293+6530_293+6531del (POLR2F)	NP_001288059.1:n.293+6530_293+6531del
NM_001301131.1:c.293+6530_293+6531del (POLR2F)	NP_001288060.1:n.293+6530_293+6531del
NM_006941.3:c.1195_1196del , LRG_271t1:c.1195_1196del (SOX10)	NP_008872.1:p.Gln399ValfsTer2
XR_938243.1:n.158+1390_158+1391del
NM_001363825.1:c.*38+1390_*38+1391del (POLR2F)	NP_001350754.1:n.*38+1390_*38+1391del
NM_001301130.2:c.293+6530_293+6531del (POLR2F)	NP_001288059.1:n.293+6530_293+6531del
NM_001301131.2:c.293+6530_293+6531del (POLR2F)	NP_001288060.1:n.293+6530_293+6531del
NM_006941.4:c.1195_1196del (SOX10) MANE Select	NP_008872.1:p.Gln399ValfsTer2