Canonical Allele Identifier: CA2656622168

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37973856-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973858_37973859del , CM000684.2:g.37973858_37973859del	GRCh38
NC_000022.10:g.38369865_38369866del , CM000684.1:g.38369865_38369866del	GRCh37
NC_000022.9:g.36699811_36699812del	NCBI36
NG_007948.1:g.15675_15676del , LRG_271:g.15675_15676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1254_1255del (SOX10)	ENSP00000513596.1:p.Pro419ThrfsTer?
ENST00000690831.1:c.*660_*661del (SOX10)	ENSP00000510381.1:n.*660_*661del
ENST00000396884.8:c.1038_1039del (SOX10) MANE Select	ENSP00000380093.2:p.Pro347ThrfsTer?
ENST00000651746.1:c.166-2854_166-2853del (SOX10)
ENST00000360880.6:c.1038_1039del (SOX10)	ENSP00000354130.2:p.Pro347ThrfsTer?
ENST00000396884.6:c.1038_1039del (SOX10)	ENSP00000380093.2:p.Pro347ThrfsTer?
ENST00000405557.5:c.293+6688_293+6689del (POLR2F)	ENSP00000384112.1:n.293+6688_293+6689del
ENST00000407936.5:c.293+6688_293+6689del (POLR2F)	ENSP00000385725.1:n.293+6688_293+6689del
ENST00000443002.5:c.*38+1548_*38+1549del (POLR2F)	ENSP00000406826.1:n.*38+1548_*38+1549del
ENST00000446929.5:c.482+186_482+187del (SOX10)
NM_001301130.1:c.293+6688_293+6689del (POLR2F)	NP_001288059.1:n.293+6688_293+6689del
NM_001301131.1:c.293+6688_293+6689del (POLR2F)	NP_001288060.1:n.293+6688_293+6689del
NM_006941.3:c.1038_1039del , LRG_271t1:c.1038_1039del (SOX10)	NP_008872.1:p.Pro347ThrfsTer?
XR_938243.1:n.158+1548_158+1549del
NM_001363825.1:c.*38+1548_*38+1549del (POLR2F)	NP_001350754.1:n.*38+1548_*38+1549del
NM_001301130.2:c.293+6688_293+6689del (POLR2F)	NP_001288059.1:n.293+6688_293+6689del
NM_001301131.2:c.293+6688_293+6689del (POLR2F)	NP_001288060.1:n.293+6688_293+6689del
NM_006941.4:c.1038_1039del (SOX10) MANE Select	NP_008872.1:p.Pro347ThrfsTer?