Canonical Allele Identifier: CA2656621543

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37973488-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973491_37973493del , CM000684.2:g.37973491_37973493del	GRCh38
NC_000022.10:g.38369498_38369500del , CM000684.1:g.38369498_38369500del	GRCh37
NC_000022.9:g.36699444_36699446del	NCBI36
NG_007948.1:g.16042_16044del , LRG_271:g.16042_16044del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.*4_*6del (SOX10)	ENSP00000513596.1:n.*4_*6del
ENST00000690831.1:c.*1027_*1029del (SOX10)	ENSP00000510381.1:n.*1027_*1029del
ENST00000396884.8:c.*4_*6del (SOX10) MANE Select	ENSP00000380093.2:n.*4_*6del
ENST00000651746.1:c.166-2487_166-2485del (SOX10)
ENST00000360880.6:c.*4_*6del (SOX10)	ENSP00000354130.2:n.*4_*6del
ENST00000396884.6:c.*4_*6del (SOX10)	ENSP00000380093.2:n.*4_*6del
ENST00000405557.5:c.293+6321_293+6323del (POLR2F)	ENSP00000384112.1:n.293+6321_293+6323del
ENST00000407936.5:c.293+6321_293+6323del (POLR2F)	ENSP00000385725.1:n.293+6321_293+6323del
ENST00000443002.5:c.*38+1181_*38+1183del (POLR2F)	ENSP00000406826.1:n.*38+1181_*38+1183del
ENST00000446929.5:c.482+553_482+555del (SOX10)
NM_001301130.1:c.293+6321_293+6323del (POLR2F)	NP_001288059.1:n.293+6321_293+6323del
NM_001301131.1:c.293+6321_293+6323del (POLR2F)	NP_001288060.1:n.293+6321_293+6323del
NM_006941.3:c.*4_*6del , LRG_271t1:c.*4_*6del (SOX10)	NP_008872.1:n.*4_*6del
XR_938243.1:n.158+1181_158+1183del
NM_001363825.1:c.*38+1181_*38+1183del (POLR2F)	NP_001350754.1:n.*38+1181_*38+1183del
NM_001301130.2:c.293+6321_293+6323del (POLR2F)	NP_001288059.1:n.293+6321_293+6323del
NM_001301131.2:c.293+6321_293+6323del (POLR2F)	NP_001288060.1:n.293+6321_293+6323del
NM_006941.4:c.*4_*6del (SOX10) MANE Select	NP_008872.1:n.*4_*6del