Canonical Allele Identifier: CA752960817

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1456736884
• gnomAD v3: 22-37977974-T-TGCTCGGCCTCCCCACCGGGGC
• gnomAD v4: 22-37977974-T-TGCTCGGCCTCCCCACCGGGGC
• MyVariant Identifiers: chr22:g.38373981_38373982insGCTCGGCCTCCCCACCGGGGC (hg19) ; chr22:g.37977974_37977975insGCTCGGCCTCCCCACCGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977975_37977995dup , CM000684.2:g.37977975_37977995dup	GRCh38
NC_000022.10:g.38373982_38374002dup , CM000684.1:g.38373982_38374002dup	GRCh37
NC_000022.9:g.36703928_36703948dup	NCBI36
NG_007948.1:g.11538_11558dup , LRG_271:g.11538_11558dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.785_805dup (SOX10)	ENSP00000513596.1:p.Glu268_Gln269insArgPr...
ENST00000690831.1:c.*191_*211dup (SOX10)	ENSP00000510381.1:n.*191_*211dup
ENST00000396884.8:c.569_589dup (SOX10) MANE Select	ENSP00000380093.2:p.Glu196_Gln197insArgPr...
ENST00000651746.1:c.37_57dup (SOX10)
ENST00000360880.6:c.569_589dup (SOX10)	ENSP00000354130.2:p.Glu196_Gln197insArgPr...
ENST00000396884.6:c.569_589dup (SOX10)	ENSP00000380093.2:p.Glu196_Gln197insArgPr...
ENST00000405557.5:c.293+10805_293+10825dup (POLR2F)	ENSP00000384112.1:n.293+10805_293+10825du...
ENST00000407936.5:c.294-8179_294-8159dup (POLR2F)	ENSP00000385725.1:n.294-8179_294-8159dup
ENST00000427770.1:c.569_589dup (SOX10)	ENSP00000414853.1:p.Glu196_Gln197insArgPr...
ENST00000443002.5:c.*38+5665_*38+5685dup (POLR2F)	ENSP00000406826.1:n.*38+5665_*38+5685dup
ENST00000446929.5:c.199_219dup (SOX10)
NM_001301130.1:c.294-8179_294-8159dup (POLR2F)	NP_001288059.1:n.294-8179_294-8159dup
NM_001301131.1:c.293+10805_293+10825dup (POLR2F)	NP_001288060.1:n.293+10805_293+10825dup
NM_006941.3:c.569_589dup , LRG_271t1:c.569_589dup (SOX10)	NP_008872.1:p.Glu196_Gln197insArgProGlyGl...
XR_938243.1:n.158+5665_158+5685dup
NM_001363825.1:c.*38+5665_*38+5685dup (POLR2F)	NP_001350754.1:n.*38+5665_*38+5685dup
NM_001301130.2:c.294-8179_294-8159dup (POLR2F)	NP_001288059.1:n.294-8179_294-8159dup
NM_001301131.2:c.293+10805_293+10825dup (POLR2F)	NP_001288060.1:n.293+10805_293+10825dup
NM_006941.4:c.569_589dup (SOX10) MANE Select	NP_008872.1:p.Glu196_Gln197insArgProGlyGl...