Canonical Allele Identifier: CA639209125

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1352888893
• gnomAD v2: 22-38369279-TCTC-T
• gnomAD v3: 22-37973272-TCTC-T
• gnomAD v4: 22-37973272-TCTC-T
• MyVariant Identifiers: chr22:g.38369280_38369282del (hg19) ; chr22:g.37973273_37973275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973276_37973278del , CM000684.2:g.37973276_37973278del	GRCh38
NC_000022.10:g.38369283_38369285del , CM000684.1:g.38369283_38369285del	GRCh37
NC_000022.9:g.36699229_36699231del	NCBI36
NG_007948.1:g.16258_16260del , LRG_271:g.16258_16260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*220_*222del (SOX10)	ENSP00000513596.1:n.*220_*222del
ENST00000690831.1:c.*1243_*1245del (SOX10)	ENSP00000510381.1:n.*1243_*1245del
ENST00000396884.8:c.*220_*222del (SOX10) MANE Select	ENSP00000380093.2:n.*220_*222del
ENST00000651746.1:c.166-2271_166-2269del (SOX10)
ENST00000360880.6:c.*220_*222del (SOX10)	ENSP00000354130.2:n.*220_*222del
ENST00000396884.6:c.*220_*222del (SOX10)	ENSP00000380093.2:n.*220_*222del
ENST00000405557.5:c.293+6106_293+6108del (POLR2F)	ENSP00000384112.1:n.293+6106_293+6108del
ENST00000407936.5:c.293+6106_293+6108del (POLR2F)	ENSP00000385725.1:n.293+6106_293+6108del
ENST00000443002.5:c.*38+966_*38+968del (POLR2F)	ENSP00000406826.1:n.*38+966_*38+968del
ENST00000446929.5:c.482+769_482+771del (SOX10)
NM_001301130.1:c.293+6106_293+6108del (POLR2F)	NP_001288059.1:n.293+6106_293+6108del
NM_001301131.1:c.293+6106_293+6108del (POLR2F)	NP_001288060.1:n.293+6106_293+6108del
NM_006941.3:c.*220_*222del , LRG_271t1:c.*220_*222del (SOX10)	NP_008872.1:n.*220_*222del
XR_938243.1:n.158+966_158+968del
NM_001363825.1:c.*38+966_*38+968del (POLR2F)	NP_001350754.1:n.*38+966_*38+968del
NM_001301130.2:c.293+6106_293+6108del (POLR2F)	NP_001288059.1:n.293+6106_293+6108del
NM_001301131.2:c.293+6106_293+6108del (POLR2F)	NP_001288060.1:n.293+6106_293+6108del
NM_006941.4:c.*220_*222del (SOX10) MANE Select	NP_008872.1:n.*220_*222del