Canonical Allele Identifier: CA2404601905

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973185_37973196delinsCCCTTCTCAGGT , CM000684.2:g.37973185_37973196delinsCCCTTCTCAGGT	GRCh38
NC_000022.10:g.38369192_38369203delinsCCCTTCTCAGGT , CM000684.1:g.38369192_38369203delinsCCCTTCTCAGGT	GRCh37
NC_000022.9:g.36699138_36699149delinsCCCTTCTCAGGT	NCBI36
NG_007948.1:g.16337_16348delinsACCTGAGAAGGG , LRG_271:g.16337_16348delinsACCTGAGAAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*299_*310delinsACCTGAGAAGGG (SOX10)	ENSP00000513596.1:n.*299_*310delinsACCTGAGAAGGG
ENST00000690831.1:c.*1322_*1333delinsACCTGAGAAGGG (SOX10)	ENSP00000510381.1:n.*1322_*1333delinsACCTGAGAAGGG
ENST00000396884.8:c.*299_*310delinsACCTGAGAAGGG (SOX10) MANE Select	ENSP00000380093.2:n.*299_*310delinsACCTGAGAAGGG
ENST00000651746.1:c.166-2192_166-2181delinsACCTGAGAAGGG (SOX10)
ENST00000360880.6:c.*299_*310delinsACCTGAGAAGGG (SOX10)	ENSP00000354130.2:n.*299_*310delinsACCTGAGAAGGG
ENST00000396884.6:c.*299_*310delinsACCTGAGAAGGG (SOX10)	ENSP00000380093.2:n.*299_*310delinsACCTGAGAAGGG
ENST00000405557.5:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	ENSP00000384112.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
ENST00000407936.5:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	ENSP00000385725.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
ENST00000443002.5:c.*38+875_*38+886delinsCCCTTCTCAGGT (POLR2F)	ENSP00000406826.1:n.*38+875_*38+886delinsCCCTTCTCAGGT
ENST00000446929.5:c.482+848_482+859delinsACCTGAGAAGGG (SOX10)
NM_001301130.1:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	NP_001288059.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
NM_001301131.1:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	NP_001288060.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
NM_006941.3:c.*299_*310delinsACCTGAGAAGGG , LRG_271t1:c.*299_*310delinsACCTGAGAAGGG (SOX10)	NP_008872.1:n.*299_*310delinsACCTGAGAAGGG
XR_938243.1:n.158+875_158+886delinsCCCTTCTCAGGT
NM_001363825.1:c.*38+875_*38+886delinsCCCTTCTCAGGT (POLR2F)	NP_001350754.1:n.*38+875_*38+886delinsCCCTTCTCAGGT
NM_001301130.2:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	NP_001288059.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
NM_001301131.2:c.293+6015_293+6026delinsCCCTTCTCAGGT (POLR2F)	NP_001288060.1:n.293+6015_293+6026delinsCCCTTCTCAGGT
NM_006941.4:c.*299_*310delinsACCTGAGAAGGG (SOX10) MANE Select	NP_008872.1:n.*299_*310delinsACCTGAGAAGGG