Canonical Allele Identifier: CA324160363

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs894896764
• gnomAD v3: 22-37973382-TTCAGCCTCC-T
• gnomAD v4: 22-37973382-TTCAGCCTCC-T
• MyVariant Identifiers: chr22:g.38369390_38369398del (hg19) ; chr22:g.37973383_37973391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973394_37973402del , CM000684.2:g.37973394_37973402del	GRCh38
NC_000022.10:g.38369401_38369409del , CM000684.1:g.38369401_38369409del	GRCh37
NC_000022.9:g.36699347_36699355del	NCBI36
NG_007948.1:g.16142_16150del , LRG_271:g.16142_16150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.*104_*112del (SOX10)	ENSP00000513596.1:n.*104_*112del
ENST00000690831.1:c.*1127_*1135del (SOX10)	ENSP00000510381.1:n.*1127_*1135del
ENST00000396884.8:c.*104_*112del (SOX10) MANE Select	ENSP00000380093.2:n.*104_*112del
ENST00000651746.1:c.166-2387_166-2379del (SOX10)
ENST00000360880.6:c.*104_*112del (SOX10)	ENSP00000354130.2:n.*104_*112del
ENST00000396884.6:c.*104_*112del (SOX10)	ENSP00000380093.2:n.*104_*112del
ENST00000405557.5:c.293+6224_293+6232del (POLR2F)	ENSP00000384112.1:n.293+6224_293+6232del
ENST00000407936.5:c.293+6224_293+6232del (POLR2F)	ENSP00000385725.1:n.293+6224_293+6232del
ENST00000443002.5:c.*38+1084_*38+1092del (POLR2F)	ENSP00000406826.1:n.*38+1084_*38+1092del
ENST00000446929.5:c.482+653_482+661del (SOX10)
NM_001301130.1:c.293+6224_293+6232del (POLR2F)	NP_001288059.1:n.293+6224_293+6232del
NM_001301131.1:c.293+6224_293+6232del (POLR2F)	NP_001288060.1:n.293+6224_293+6232del
NM_006941.3:c.*104_*112del , LRG_271t1:c.*104_*112del (SOX10)	NP_008872.1:n.*104_*112del
XR_938243.1:n.158+1084_158+1092del
NM_001363825.1:c.*38+1084_*38+1092del (POLR2F)	NP_001350754.1:n.*38+1084_*38+1092del
NM_001301130.2:c.293+6224_293+6232del (POLR2F)	NP_001288059.1:n.293+6224_293+6232del
NM_001301131.2:c.293+6224_293+6232del (POLR2F)	NP_001288060.1:n.293+6224_293+6232del
NM_006941.4:c.*104_*112del (SOX10) MANE Select	NP_008872.1:n.*104_*112del