Canonical Allele Identifier: CA2656620649

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37973015-AGCTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973017_37973021del , CM000684.2:g.37973017_37973021del	GRCh38
NC_000022.10:g.38369024_38369028del , CM000684.1:g.38369024_38369028del	GRCh37
NC_000022.9:g.36698970_36698974del	NCBI36
NG_007948.1:g.16513_16517del , LRG_271:g.16513_16517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*475_*479del (SOX10)	ENSP00000513596.1:n.*475_*479del
ENST00000690831.1:c.*1498_*1502del (SOX10)	ENSP00000510381.1:n.*1498_*1502del
ENST00000396884.8:c.*475_*479del (SOX10) MANE Select	ENSP00000380093.2:n.*475_*479del
ENST00000651746.1:c.166-2016_166-2012del (SOX10)
ENST00000360880.6:c.*475_*479del (SOX10)	ENSP00000354130.2:n.*475_*479del
ENST00000396884.6:c.*475_*479del (SOX10)	ENSP00000380093.2:n.*475_*479del
ENST00000405557.5:c.293+5847_293+5851del (POLR2F)	ENSP00000384112.1:n.293+5847_293+5851del
ENST00000407936.5:c.293+5847_293+5851del (POLR2F)	ENSP00000385725.1:n.293+5847_293+5851del
ENST00000443002.5:c.*38+707_*38+711del (POLR2F)	ENSP00000406826.1:n.*38+707_*38+711del
ENST00000446929.5:c.482+1024_482+1028del (SOX10)
NM_001301130.1:c.293+5847_293+5851del (POLR2F)	NP_001288059.1:n.293+5847_293+5851del
NM_001301131.1:c.293+5847_293+5851del (POLR2F)	NP_001288060.1:n.293+5847_293+5851del
NM_006941.3:c.*475_*479del , LRG_271t1:c.*475_*479del (SOX10)	NP_008872.1:n.*475_*479del
XR_938243.1:n.158+707_158+711del
NM_001363825.1:c.*38+707_*38+711del (POLR2F)	NP_001350754.1:n.*38+707_*38+711del
NM_001301130.2:c.293+5847_293+5851del (POLR2F)	NP_001288059.1:n.293+5847_293+5851del
NM_001301131.2:c.293+5847_293+5851del (POLR2F)	NP_001288060.1:n.293+5847_293+5851del
NM_006941.4:c.*475_*479del (SOX10) MANE Select	NP_008872.1:n.*475_*479del