Canonical Allele Identifier: CA2590296182

Gene: SOX10 POLR2F

Linked Data

• gnomAD v3: 22-37973269-CCTT-C
• gnomAD v4: 22-37973269-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973272_37973274del , CM000684.2:g.37973272_37973274del	GRCh38
NC_000022.10:g.38369279_38369281del , CM000684.1:g.38369279_38369281del	GRCh37
NC_000022.9:g.36699225_36699227del	NCBI36
NG_007948.1:g.16261_16263del , LRG_271:g.16261_16263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*223_*225del (SOX10)	ENSP00000513596.1:n.*223_*225del
ENST00000690831.1:c.*1246_*1248del (SOX10)	ENSP00000510381.1:n.*1246_*1248del
ENST00000396884.8:c.*223_*225del (SOX10) MANE Select	ENSP00000380093.2:n.*223_*225del
ENST00000651746.1:c.166-2268_166-2266del (SOX10)
ENST00000360880.6:c.*223_*225del (SOX10)	ENSP00000354130.2:n.*223_*225del
ENST00000396884.6:c.*223_*225del (SOX10)	ENSP00000380093.2:n.*223_*225del
ENST00000405557.5:c.293+6102_293+6104del (POLR2F)	ENSP00000384112.1:n.293+6102_293+6104del
ENST00000407936.5:c.293+6102_293+6104del (POLR2F)	ENSP00000385725.1:n.293+6102_293+6104del
ENST00000443002.5:c.*38+962_*38+964del (POLR2F)	ENSP00000406826.1:n.*38+962_*38+964del
ENST00000446929.5:c.482+772_482+774del (SOX10)
NM_001301130.1:c.293+6102_293+6104del (POLR2F)	NP_001288059.1:n.293+6102_293+6104del
NM_001301131.1:c.293+6102_293+6104del (POLR2F)	NP_001288060.1:n.293+6102_293+6104del
NM_006941.3:c.*223_*225del , LRG_271t1:c.*223_*225del (SOX10)	NP_008872.1:n.*223_*225del
XR_938243.1:n.158+962_158+964del
NM_001363825.1:c.*38+962_*38+964del (POLR2F)	NP_001350754.1:n.*38+962_*38+964del
NM_001301130.2:c.293+6102_293+6104del (POLR2F)	NP_001288059.1:n.293+6102_293+6104del
NM_001301131.2:c.293+6102_293+6104del (POLR2F)	NP_001288060.1:n.293+6102_293+6104del
NM_006941.4:c.*223_*225del (SOX10) MANE Select	NP_008872.1:n.*223_*225del