Canonical Allele Identifier: CA2404601828
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37973025_37973029delinsACAGT , CM000684.2:g.37973025_37973029delinsACAGT GRCh38
NC_000022.10:g.38369032_38369036delinsACAGT , CM000684.1:g.38369032_38369036delinsACAGT GRCh37
NC_000022.9:g.36698978_36698982delinsACAGT NCBI36
NG_007948.1:g.16504_16508delinsACTGT , LRG_271:g.16504_16508delinsACTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.*466_*470delinsACTGT (SOX10) ENSP00000513596.1:n.*466_*470delinsACTGT
ENST00000690831.1:c.*1489_*1493delinsACTGT (SOX10) ENSP00000510381.1:n.*1489_*1493delinsACTGT
ENST00000396884.8:c.*466_*470delinsACTGT (SOX10) MANE Select ENSP00000380093.2:n.*466_*470delinsACTGT
ENST00000651746.1:c.166-2025_166-2021delinsACTGT (SOX10)
ENST00000360880.6:c.*466_*470delinsACTGT (SOX10) ENSP00000354130.2:n.*466_*470delinsACTGT
ENST00000396884.6:c.*466_*470delinsACTGT (SOX10) ENSP00000380093.2:n.*466_*470delinsACTGT
ENST00000405557.5:c.293+5855_293+5859delinsACAGT (POLR2F) ENSP00000384112.1:n.293+5855_293+5859delinsACAGT
ENST00000407936.5:c.293+5855_293+5859delinsACAGT (POLR2F) ENSP00000385725.1:n.293+5855_293+5859delinsACAGT
ENST00000443002.5:c.*38+715_*38+719delinsACAGT (POLR2F) ENSP00000406826.1:n.*38+715_*38+719delinsACAGT
ENST00000446929.5:c.482+1015_482+1019delinsACTGT (SOX10)
NM_001301130.1:c.293+5855_293+5859delinsACAGT (POLR2F) NP_001288059.1:n.293+5855_293+5859delinsACAGT
NM_001301131.1:c.293+5855_293+5859delinsACAGT (POLR2F) NP_001288060.1:n.293+5855_293+5859delinsACAGT
NM_006941.3:c.*466_*470delinsACTGT , LRG_271t1:c.*466_*470delinsACTGT (SOX10) NP_008872.1:n.*466_*470delinsACTGT
XR_938243.1:n.158+715_158+719delinsACAGT
NM_001363825.1:c.*38+715_*38+719delinsACAGT (POLR2F) NP_001350754.1:n.*38+715_*38+719delinsACAGT
NM_001301130.2:c.293+5855_293+5859delinsACAGT (POLR2F) NP_001288059.1:n.293+5855_293+5859delinsACAGT
NM_001301131.2:c.293+5855_293+5859delinsACAGT (POLR2F) NP_001288060.1:n.293+5855_293+5859delinsACAGT
NM_006941.4:c.*466_*470delinsACTGT (SOX10) MANE Select NP_008872.1:n.*466_*470delinsACTGT